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Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

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2 days ago · First Diagnostic Criteria Determined for Spinal Cord Strokes

These MRI images of spinal cross-sections show several different potential characteristics of spinal cord stroke.

Mayo Clinic researchers have outlined diagnostic criteria for determining spinal cord strokes. One reviewer described their research, published in the Journal of the American Medical Association Neurology, as “a seminal paper” that will help diagnose spinal cord strokes, which oftentimes are misdiagnosed.

“Spinal cord strokes can be confidently diagnosed by following the diagnostic criteria we have developed, which helps guide acute treatment and future research for this patient population,” says Nicolas Zalewski, M.D. (@nzalewski2), Mayo Clinic neurologist and first author on the paper. “It is common for patients with a spinal cord stroke to be misdiagnosed with an inflammatory spinal cord disease.”

“a seminal paper” that will help diagnose spinal cord strokes, which oftentimes are misdiagnosed.

If patients with spinal cord strokes are misdiagnosed, they could be exposed to unnecessary and possibly harmful interventions, such as aggressive immunotherapies, as well as missed treatment opportunities and secondary stroke prevention.

What is a spinal cord stroke?

A spinal cord stroke occurs when the blood supply to the spinal cord stops. When the blood supply is cut off, the spinal cord can’t get oxygen and nutrients.

The tissues of the spinal cord may be damaged and not able to send nerve impulses (messages) to the rest of the body. These nerve impulses are vital for controlling activities of the body, such as moving the arms and legs, and allowing organs to work properly.

Spinal strokes are much less common than strokes that affect the brain, accounting for less than two percent of all strokes.

The research team evaluated the electronic medical records of 133 Mayo Clinic patients with a spontaneous spinal cord stroke, or spinal cord infarction, over a period of 20 years from 1997-2017.

“Our study found typical clinical and imaging features that can differentiate spinal cord stroke from alternative causes of spinal cord disease,” Dr. Zalewski said. These features were formulated into diagnostic criterial that focus on four primary components for diagnosing spinal cord infarction:

  • Severe spinal cord symptoms that develop within 12 hours or less
  • MRI showing no spinal cord compression and typical features of spinal cord infarction
  • Spinal fluid with no inflammation
  • Lack of a likely alternative diagnosis

Of the 133 patients included in the Mayo study, 29.3 percent of the patients had definite spinal cord infarction; 62.4 percent had probable spinal cord infarction and 7.5 percent had possible spinal cord infarction. One patient did not meet the diagnostic criteria.

Dr. Zalewski notes that the new diagnostic criteria for spinal cord stroke helps physicians in three ways:

  1. Improved diagnostic certainty helping delineate the correct treatment approach while avoiding unnecessary tests and potentially harmful treatments used for alternative spinal cord diseases.
  2. Increased recognition and diagnosis of the condition which will further highlight this under recognized condition in the neurology community.
  3. A foundation to build upon for future research including clinical trials to help treat patients with this often disabling condition.

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Thu, Oct 4 6:00am · Pet Project: Using AI to forecast and prevent epileptic seizures

If you’re in California and see a dog outfitted in a snazzy vest with an electronic tablet, Spot, Fido or Lassie just might be participating in a Mayo Clinic epilepsy trial.

Mayo Clinic and Medtronic are developing a next-generation epilepsy therapeutics platform that integrates brain implants with local and distributing computing environments to continuously chronicle brain activity and deliver electrical brain stimulation guided by artificial intelligence (AI) algorithms.

This research is part of the National Institutes of Health’s Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative, which aims to revolutionize understanding of the human brain. Mayo Clinic has partnered with Medtronic, the University of Minnesota, the University of Pennsylvania and the University of California, Davis, to create this epilepsy-management platform. The research is focused on drug-resistant epilepsy and has been studied in dogs with naturally occurring epilepsy in a laboratory kennel setting for several years. The four-legged Californians are the first to test the epilepsy management system in real-world conditions.

The pets newly enrolled in the study through the University of California, Davis, have electrodes implanted in their brains to provide 16 channels of intracranial electroencephalography (iEEG) and a rechargeable telemetry device implanted in their furry chests. A “handheld” device, stored in the dog’s vest, couples with cloud-computing resources and machine-learning algorithms to provide a seamless interface between the patient and physicians to automatically track disease activity and administer informed therapy.

Canine comparison
The prevalence, age of onset and clinical presentation of canine epilepsy is similar to human disease, and dogs’ brain and body sizes are large enough to accommodate human-scale implants. Canine epilepsy is treated with many of the same medications and dosages as human epilepsy, and the refractory rate to medications is comparable in both groups. Approximately one-third of canines and people with epilepsy are resistant to drug therapy. The results of the trial could help the 1 million people who have uncontrolled epilepsy.

“Seeing your pet have a grand mal seizure is traumatizing,” says Gregory Worrell, M.D., Ph.D., an epileptologist in the Department of Neurology at Mayo Clinic in Rochester and principal investigator of the trial. “The dogs in this trial — and their owners — stand to benefit greatly from this epilepsy-management system. It goes without saying that people who participate in an upcoming parallel human trial could achieve life-changing results from this potentially transformative technology.”

The four-legged Californians are the first to test the epilepsy-management system in real-world conditions.

Collar all the parts
Previous trials at Mayo Clinic and elsewhere have demonstrated the efficacy of automated seizure detection, electronic seizure diaries, seizure forecasting and electronic brain stimulation to reduce seizures. Yet all of those pieces haven’t been demonstrated together in a cohesive system, which is the goal of the Mayo Clinic trial. The pet study will last three years, and human trials with the same system are expected to commence later this summer.

Dogs enrolled in the study will have three seizures without electronic brain stimulation being administered. Those first few seizures will be recorded and the data analyzed to determine predictive biomarkers for each trial participant. Ideally, subsequent seizures will be reliably predicted, treated with neurostimulation and prevented. Participating dogs will retain the system upon completion of the trial.

Put a leash on seizures

Gregory Worrell, M.D., Ph.D., and Jamie Van Gompel, M.D.

This project requires a multidisciplinary team of Mayo Clinic engineers, scientists, physicians and surgeons working closely with industry and the FDA.

“This is a new paradigm in which we’re using artificial intelligence to develop forecasts,” says Benjamin Brinkmann, Ph.D., lead engineer, Mayo Clinic’s Advanced Analytics Services. “We collect brainwave activity with the implanted device and run machine learning algorithms on the handheld device and cloud. Between these two architectures, we can forecast seizures and talk back to the device to administer patients’ therapy — stimulating multiple brain regions in real time to prevent seizures.”

Jamie Van Gompel, M.D., Department of Neurologic Surgery, says the implantable portions of the epilepsy management system are placed in a surgery that lasts only a few hours. “There are no repeat procedures or seizure induction required. The results of the dog trial will help us strengthen the engineering of the system before the human trial commences. We’re already working on the next generation of these devices.”

Dr. Worrell points out that the Medtronic-designed device is being tested in human trials with other diseases in the BRAIN Initiative, including Parkinson’s disease, cognitive disorders, depression, obsessive-compulsive disorder and dyskinesias.

“The potential for neuromodulation and neuro-restoration is exciting,” says Dr. Worrell. “This trial focuses on a therapy for a specific disease, but there’s evidence that brain stimulation can improve, restore and even enhance function. For now, we’re pleased to be on the cusp of transforming epilepsy care by using intelligent devices and technology that reliably forecast and deter seizure onset to improve the lives of patients.”

This article originally appeared in Mayo Clinic Alumni Magazine, Issue 2, 2018.

Tue, Sep 25 6:00am · Can geology upend decades of medical wisdom about kidney stones?

Cross section of a kidney stone. Image provided by UIUC.

Article by Alex Generous

Like stones formed in nature, kidney stones show signs of being partially dissolved and remade.  Implication: there may be a way to remove kidney stones without surgery or passing them in urine.

An unlikely collaboration between a geologist at the University of Illinois Urbana-Champaign and researchers at Mayo Clinic has overturned physicians’ long-held assumptions about the nature of kidney stones. Physicians believed kidney stones could not be dissolved, and so did not pursue developing a non-surgical treatment.

With the publication of this study Scientific Reports, the race has now begun to identify the stone-dissolving process in the kidney so that physicians can develop a treatment.

A Geologist Turns Towards Kidneys

Bruce Fouke, Ph.D. , is a geologist who studies microbes in rock formations from ancient coral reefs to Roman aqueducts to hot springs. After giving a talk at Mayo Clinic, he was recruited by John Lieske, M.D., to look at patients’ kidney stones.

When asked what he thought of working with his Mayo-based colleagues, Dr. Fouke said, “In my career I don’t know that I’ve had a more exciting, inspiring, and insightful collaboration.”

Dr. Fouke applied his geology expertise to examine stones extracted from Mayo Clinic patients. His group then performed an extensive analysis of very thin layers of the kidney stones with several high-powered super-resolution microscopy techniques.

By carefully examining the composition of the kidney stones, they were able to show that a kidney stone does not continuously grow like previously thought. Instead, the minerals of the stone show evidence of dissolving and reforming.

Different layers are formed by the process, similar to the stratification of stones and fossils that Dr. Fouke had previously studied. In fact, the layers appear to capture information about what is happening in the kidney in the same way that fossils from different time periods are trapped in different layers of rocks. In the future, these layers of information could be used to find what has happened in an individual patient’s kidney, giving clues and context for physicians to administer personalized medicine.

Collaboration Creates a Productive Research Environment

Images provided by UIUC.

The collaboration was made possible through an annual meeting of the Mayo Clinic and University of Illinois Alliance for Technology-Based Healthcare, which was created to explore such out-of-the-box ideas by introducing researchers from diverse fields of study to each other.

According to Michael Romero, Ph.D., a fellow researcher on the project, “this study would not have been possible without the Alliance, the O’Brien Urology Research Center at Mayo, and the special research conditions here.”

In this case, Dr. Fouke had never even considered that his research could be used to advance the field of kidney research, but Dr. Lieske realized that Dr. Fouke’s experience could be a valuable contribution to kidney science.

“I entered the project knowing nothing,” Dr. Fouke admitted, “Dr. Lieske and Romero taught me the basics of nephrology. They took me from zero to good.”

“You wouldn’t think to give geologists patients’ samples,” said Dr. Romero, “but they have skills and techniques we don’t have in biomedical sciences. “

Who did the work?

As an additional connection, a current medical student at the Mayo Clinic School of Medicine, Jessica Saw, was one the two main drivers of the project. Through the special relationship of Mayo Clinic and the University of Illinois, she is on leave from the medical school to pursue a Ph.D. at the University of Illinois in Dr. Fouke’s lab. The collaboration between these two powerhouse institutions allowed her to perform research at a unique stage in her career.

For the future, all of the collaborators intend to continue working together to further study what they can learn by applying geology to the inside of the human body.

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Tue, Sep 11 6:00am · Meet Katrina Croghan, Clinical Research Coordinator

7_26_18_Katrina_Croghan

Katrina Croghan is clinical research coordinator for Mayo Clinic Cancer Center, assigned to the division of Hematology in Rochester, Minnesota.

She began her career in ecology and animal science, but while en route to a related Ph.D., ended up as a supplemental research coordinator because of her knowledge of writing protocols and conducting research. She says:

“For a short time, I worked as a float research coordinator. I would go to departments that needed research coordinators. Along the way, I learned many different aspects of being a coordinator.”

When she had the opportunity to work  with Morie Gertz, M.D., on an amyloidosis study in 2015, she found she thoroughly enjoyed working with patients, and ended up staying in hematology research.

What does a clinical research coordinator do?

Many people just think, ‘oh, you just coordinate things,’ but there is so much more to it than that. We are the liaisons between all parties involved in a research study, including the patient, the pharmaceutical company and its clinical research office, the principle investigator(s) onsite, and regulatory bodies and related requirements including: U.S. Food and Drug Administration (FDA) regulations, Internal Review Board (IRB) requirements and International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) guidelines.

So, making sure all parties are being accommodated while following regulations can be quite challenging.

What I appreciate is, especially at Mayo Clinic, we keep the patient in the forefront. Studies are a constant balancing act between what is best for the patient and what needs to be done for the study.

The one thing I always strive for is that our patients never feel like a number. No patient should ever feel like a number, especially in research. I work really hard behind the scenes to try and make a research study feel easy for the patient, because they are already dealing with so much.

As you mentioned, patients are at the forefront of clinical research. What is your role with the patient?

Our job [clinical research coordinator] is to make sure a patient not only understands the risk factors of trial participation, but to make sure they understand the integrity of the study as well. Consent forms are usually 25-30 pages long and filled with a daunting amount of details.

It is our job to make sure they don’t feel pressured to do a study. Then, we have to verify that the patient understands what he or she is signing up for. Everything in research is voluntary and the patient can stop the study at any time.

Beyond scheduling, it seems that building relationships with study participants is an integral part of a coordinators role.

Coordinators often become the front line for patients because they feel more comfortable with us. We create relationships with a lot of our patients, especially in hematology, because we may see some of our participants over many years and sometimes on multiple trials. Getting to know participants helps the patient feel more comfortable and can increase the accuracy of the data collected in the study.

When explaining a study with a patient, what are some of the common concerns a patient may express?

It is a bit different with hematology patients. Because patients may be facing such a rare, complex disease, often times, there are not many apprehensions about participating in a clinical drug study. One common concern is often travel. Another is how many visits and how often a patient has to be on-site.

In regards to hematology patients, they are the closest representation of altruism I have ever experienced as a coordinator. These patients, especially with rare diseases, are not always concerned with how it benefits them, but rather how it will help their family members or others who may get or express the disease.

A common misconception regarding all studies is that all travel and drug costs will be reimbursed. While this may be the true for some studies, it is not universal for all studies. That is an important part of each study I make sure to discuss with each patient thoroughly before consent. Because the consent document is so long and complex, we often revisit this topic multiple times during visits to help keep the patient informed throughout the study.

From a medical aspect, what do you find interesting in regards to the research itself?

It is amazing to watch a drug go from phase I all the way through to FDA approval. It is also encouraging that when I started some of the rare diseases had little to no treatment, but now have multiple studies and trials advancing to FDA approval. It gets back to the altruism that many of the participants exhibit. The future generations will have far more treatment options as a result of patient participation and the clinical research they make possible.

At the end of the day, what is the best part of your job?

Often times, it is the involvement of the family. Most families are incredibly supportive and want to meet the doctors and want it to be a learning experience. Their encouragement and involvement is a beautiful thing to see. The other simple answer is watching the drugs or study benefit the patient.

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Excerpted from an interview with Croghan published on Mayo Clinic Connect, an online community for people to share experiences and find support from others like themselves.

 

Thu, Sep 6 6:00am · Deep Space Medicine Research Program

Shoots to facilitate missions to Mars and improve health on Earth

Alejandro Rabinstein, M.D., is a neurologist at Mayo Clinic, and the driving force behind Mayo’s deep space medicine research.

A full year before Alejandro Rabinstein, M.D., was born in Cordoba, Argentina, Apollo 11 made the first successful landing on the moon and U.S. astronaut Neil Armstrong became the first person to set foot on another planet. That was the summer of 1969. Forty-eight years later, Dr. Rabinstein has become Mayo Clinic’s expert on deep space travel medicine — a role he never anticipated.

“I wasn’t interested in space as a kid, and I’m not a sci-fi buff,” says Dr. Rabinstein, a consultant in the Department of Neurology at Mayo Clinic in Rochester. “I am, however, intellectually curious. I have the mindset of a clinician. I believe deep space medicine can be transformative and transcendent and can only enrich our knowledge about Earthbound human health. While I understand the allure of space travel, my fascination isn’t with the stars. Rather, my hope is that this work will spill over into patient care.”

Dr. Rabinstein is the energy behind Mayo Clinic’s nascent deep space medicine research program. Mayo hopes to lend its widespread multidisciplinary expertise to the medical challenges astronauts face. On long space flights, astronauts experience health-related problems including visual and sleep disturbances, a vertical brain shift, a narrowing of the central sulcus, behavioral problems and radiation exposure. So when NASA sends humans hurtling on a yearlong mission into deep space in the 2020s to test readiness for Mars and, ultimately, on a three-year round trip to Mars in the 2030s, what can space travelers expect? Based on experience with astronauts, experts expect Mars travelers will undergo physiologic changes due to microgravity and ionizing radiation during prolonged space travel.

Specifically, these changes may include:

  • Intracranial hypertension and visual impairment
  • Sleep disturbances
  • Vestibular dysfunction
  • “I believe deep space medicine can be transformative and transcendent and can only enrich our knowledge about Earthbound human health.”
    – Alejandro Rabinstein, M.D.
  • Orthostatic intolerance
  • Decompressive sickness
  • Behavioral changes
  • Burnout
  • Reduced aerobic capacity
  • Reduced muscle mass
  • Inadequate nutrition
  • Bone loss and fractures
  • Intervertebral disc damage
  • Cardiac rhythm problems
  • Renal stone formation
  • Radiation exposure — acute radiation sickness, carcinogenesis, cataracts, cardiac damage, delayed degeneration of other organs/tissues, impaired wound healing, infertility, DNA damage and inheritable disorders, deleterious effects on nutrients and medications
  • Altered immune response
  • Host-microorganism interactions
  • Pharmacokinetic changes

What can medical science do to prevent, ameliorate and treat these myriad anticipated problems?

Mayo Clinic hopes to collaborate with federal entities, industry, space travel and flight operation safety experts, and physicists to solve the medical challenges of space missions and, equally important, make discoveries that are useful for clinical applications in patient care. To aid in this effort, Mayo is bringing together team members from neurology, neurosurgery, neuro-ophthalmology, neuroradiology, neuro-otology, sleep medicine, psychology, psychiatry, cardiology, pulmonology, physiatry, radiology, oncology, genetics, nutrition, endocrinology, nephrology, pharmacy, physiology, biomedical engineering, telemedicine and research.

Mayo anticipates the major themes of its research will be:

  • Discovery science aimed at understanding how microgravity, ionizing radiation and prolonged space travel adversely affect organ physiology
  • On-Earth models to explore the complex physiologic and psychologic effects of space travel
  • Technologic innovations for physiologic monitoring

Figuring out the unknowns

Dr. Rabinstein was thrust into the lead on Mayo Clinic’s deep space medicine research efforts because of his involvement with NASA on another endeavor. SpaceWorks, an aerospace engineering firm and vendor to NASA, took note of his well-published research in therapeutic hypothermia and enlisted his help. For several years Dr. Rabinstein has assisted SpaceWorks on a NASA grant to study hypothermia as a way to mediate the challenges of deep space travel, including protecting space travelers’ health by inducing a state of hibernation for a portion of their trip.

Torpor technology – Inducing hypothermia in Mars-bound astronauts

“Hypothermia reduces metabolic demand and puts the brain in a state of rest, which could give astronauts a physical and psychological break,” says Dr. Rabinstein. “It’s likely this will become a part of the deep space travel protocols.

“There’s great interest in and excitement about this kind of travel. But before people venture into deep space, they want to know that the unknowns related to their health have been figured out. We have a lot of work to do before that’s the case. Mayo Clinic has an illustrious history in aerospace medicine during World War II, and we think we can create a new history to help make it possible for humans to safely travel into deep space. When we bring to bear the vast resources and minds at Mayo Clinic, we can accomplish great things. We’re confident that includes solving the vexing physiological and psychological challenges of deep space travel and applying what we learn to help patients whose feet are firmly on the ground.”

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This article and related content were first published in Mayo Clinic Alumni MagazineIssue 2, 2018.

For more news and information about and for alumni of Mayo Clinic, visit the Alumni Association website.

For information about Mayo Clinic College of Medicine and Science, and its five schools, visit the website.

Wed, Aug 22 6:00am · Shedding light on the 'sunshine vitamin'

Vitamin D, sometimes referred to as the ‘sunshine vitamin,’ comes up frequently in the clinical setting. Over the last few decades, we have learned that vitamin D may actually have a much broader role in human health than once thought.

A deficiency in vitamin D is very common, mainly due to limited sun exposure in the general population. On the other side of the spectrum, too much vitamin D, usually because of over-supplementation, can also have negative health effects. Thus, understanding optimal levels of vitamin D is important in order to promote health.

The most important functions of vitamin D and its metabolites are calcium and phosphorus regulation and bone metabolism. However, we now know that vitamin D may have other biochemical functions including effects on inflammation, cell proliferation, gene regulation and immune function. Vitamin D deficiency has been associated with multiple diseases, some of which include depression, fibromyalgia, peripheral artery disease, cardiovascular disease, various cancers, multiple sclerosis, stroke, falls, fractures, diabetes and kidney disease. An association between vitamin D and death has also been reported.

Our research

Previous epidemiologic studies on vitamin D and mortality have had a number of limitations, many of which we thought could be addressed by the Rochester Epidemiology Project. Thus, we set out to study the relationship between both low and high vitamin D levels and risk of death, and we recently published a paper in Mayo Clinic Proceedings on this topic.

Our study used linked medical records in the Rochester Epidemiology Project to examine adult patients who had a measured vitamin D level (measured as 25-hydroxyvitamin D) over a 6-year period (2005 – 2011), and who were followed through 2014. We observed that Caucasian patients with vitamin D levels of less than 20 nanograms/milliliter (the current definition of vitamin D deficiency) were at increased risk of death compared to those with levels in the normal range of 20-50 ng/mL.

Surprisingly, we did not observe this connection in patients who were not Caucasian. We also found that high levels of vitamin D (over 50 ng/mL) are not associated with increased risk of death for either group – despite what has been reported in some other studies.

We know that low vitamin D levels are much more prevalent in darker skinned individuals, especially those who live in northern climates. However, whether this translates to higher rates of adverse health effects is unclear. Based on our findings, we can say that low vitamin D levels do not increase the risk of death in non-whites to the degree that they do in whites.

What now?

Perhaps what constitutes as a “normal” or a “deficient” vitamin D level should vary based on race/ethnicity. Unfortunately, most of the research on vitamin D has been performed in Caucasian populations, so further research with ethnically diverse populations is necessary to clarify this issue.

For the time being, when choosing to treat, until further research helps to clarify different vitamin D cutoffs based on race or ethnicity, treatment should target a vitamin D level of 20-50 ng/mL.

Also, given all the attention vitamin D has received in the last few decades, vitamin D testing has increased significantly, although sometimes perhaps unnecessarily. As with most other medical tests, vitamin D testing should only be performed if the patient’s clinical presentation indicates a possible vitamin D deficiency or excess.

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Daniel Dudenkov, M.D., is a general internal medicine doctor, and health services researcher, at Mayo Clinic in Rochester, Minnesota.

 

 

Tue, Aug 21 6:00am · 'Gut touch?' Mayo Clinic researchers discover important trigger for serotonin release

Researchers at Mayo Clinic have discovered an important mechanical trigger in the gut for releasing serotonin in the body. Serotonin is an important hormone and neurotransmitter in the human body, believed to help regulate digestion, appetite, mood, social behavior, sleep and other important functions. The researchers’ findings were published this week in the Proceedings of the National Academies of Science.

“In the gut, a special epithelial cell, called enterochromaffin, produces nearly all of the serotonin in our body,” explains Arthur Beyder, M.D., Ph.D., a gastroenterologist and biomedical engineer at Mayo Clinic. Dr. Beyder says a 60-year-old landmark study showed that mechanical forces in the gut, such as those present during digestion, serve as a trigger for serotonin release. However, the exact mechanism for how that release took place was unclear. “Because serotonin released by the enterochromaffin cells has many important functions in the body, we wanted to better understand how these cells work.”

In their research, Dr. Beyder and his colleagues discovered that a mechanosensor, called Piezo2, was specific to enterochromaffin cells. A mechanosensor is a molecule that responds to changes in mechanical force and leads to a physiologic response. “We found that a mechanosensitive ion channel called Piezo2 is in an important mechanosensor necessary for mechanical release of serotonin from the enterochromaffin cell,” says Dr. Beyder.

“We know that serotonin produced by the enterochromaffin cell is important for many local functions in the gut and the body and that serotonin signaling is disrupted in many human diseases, so we want to understand how the enterochromaffin cell works, and how it may be broken in human diseases,” says Dr. Beyder. “This knowledge could one day lead to completely novel approaches to diagnose and treat human diseases.”

For example, “serotonin release is disrupted in irritable bowel syndrome (IBS), so many drugs effective in IBS treatment target serotonin receptors. Unfortunately, since serotonin receptors are widespread in the human body, these drugs frequently cause significant side effects,” says Dr. Beyder, “so targeting serotonin release more precisely may lead to new treatments for IBS.”

Dr. Beyder and his colleagues were amazed to find that enterochromaffin cells have a specific mechanical trigger that is not present in the cells around them. They were also surprised to find how effective the blockade or elimination of this trigger is for serotonin release and for gut fluid secretion.

“Interestingly, the same mechanosensors used by enterochromaffin cells are also used by touch sensors in the skin, which like enterochromaffin cells, rely on serotonin for signaling,” says Dr. Beyder. “This makes us wonder whether there is such a thing as ‘gut touch’ and if so, what functions would ‘gut touch’ have?”

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Tue, Aug 14 8:00am · Research suggests genetics are key in treating night sweats

This post originally was published on the Center for Individualized Medicine blog on June 25, 2018

Article by Heather Carlson

Women going through menopause know all too well the discomfort associated with night sweats.

Hormone therapy is often used to prevent night sweats. But finding the right dose of estrogen can be tricky, with some women needing more estrogen than others to get relief. Why the difference in how women respond to hormone therapy? The answer may be found in a woman’s genes.

A new Mayo Clinic study published in Menopause: The Journal of the North American Menopause Society found that genetic differences appear to play a role in the effectiveness of hormonal treatment for menopausal women.

Ann Moyer, M.D., Ph.D.

“In this study, we explored how a genetic variant in a gene that regulates how estrogen is cleared from the blood alters estrogen levels and relief of night sweats in menopausal women. We hope that this study will generate interest in the potential use of genetics to individualize hormone therapy dosage and formulation,” says Ann Moyer, M.D., Ph.D., co-director of the Mayo Clinic Personalized Genomics Laboratory.

The four-year study involved 100 women enrolled in Mayo Clinic’s Kronos Early Estrogen Prevention Study. As part of the study, 33 women were given oral estrogen, 33 received an estrogen patch and the remainder was given a placebo pill or patch. At the time of enrollment, the age of women ranged from 42 to 58 and they were on average 1.4 years past menopause.

Researchers zeroed in on one specific gene — SLCO1B1. That gene provides instructions for making a protein found in liver cells. That protein transports estrogen from the blood into the liver so that it can be broken down and cleared from the body.

The study showed a significant association between differences in the SLCO1B1 gene and the amount of estrogen in a woman’s system. Genetic differences also helped determine how well a woman responded to hormone therapy. For example, women given an estrogen patch who have a genetic variation that leads to a decreased movement of estrogen from the blood into the liver saw a significantly greater drop in night sweats compared to other women.

Richard Weinshilboum, M.D.

“In this study, researchers have demonstrated that pharmacogenomics— differences in the DNA sequences in a woman’s genome — can influence the ability of her body to clear estrogen when it is used to treat her for menopausal symptoms, raising the possibility of more highly individualized dosing of estrogen in that setting,” says Richard Weinshilboum, M.D., co-director of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program and a co-author of the study. Pharmacogenomics is the study of how your genes affect the way your body processes and responds to medications.

Virginia Miller, Ph.D.

The hope is that one day, physicians can use a woman’s genetic information to determine the right amount of hormone therapy needed to treat night sweats and other menopause-related conditions, according to Virginia Miller, Ph.D., director of the Mayo Clinic Women’s Health Research Center and the study’s senior author.

 

“What we would ultimately like to be able to do is get the genetic profile for women so if they are experiencing these conditions of menopause, we can better target the treatment,” says Dr. Miller.

 

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