VMP Genetics Newsletters

Dr Fran Kendall and VMP Genetics newsletters

Periodically we publish a newsletter called VirtualNews that is full of the latest developments involving genetics. It covers a wide range of topics and is written for our patients and referring physicians.

If you wish to subscribe to receive the most current issue, please email us at info @ vmpgenetics.com.

Current Issue

Welcoming Mito Mom & Nurse, Kristi Cole, to VMP!

Known by many and beloved by all, Kristi Cole, RN/ASN, has joined us this summer and fall to complete a special project aimed at improving care to mitochondrial patients. Kristi brings a unique healthcare provider perspective to mitochondrial medicine - she has personally traversed this path with her son, Brody, who lost his courageous battle with mito in September 2009. In true Kristi style she is determined to take her personal experience and translate it into improved care for all mito patients. In her own words below, Kristi brings a message to all of you about her project goals. Welcome, Kristi! We are honored that you have chosen VMP!

“ After living in the world of mitochondrial medicine as the mother of an affected child for over six years, one thing I became acutely aware of is the lack of specialists in this field. This shortage of specialists produces an extremely heavy workload for the physicians that do choose to specialize in this field. This summer I attended the UMDF symposium in Chicago, where I discovered that nurses specializing in this field appear to be even more limited in number related to physicians. I thought about how increasing the number of nurse specialists in this field could benefit the patients and families; as well as the specialists. Since many patients with mitochondrial disease often suffer from multi-organ system involvement, having a trained healthcare professional to coordinate care could possibly lead to improved patient outcomes. This concept became the focus for a nursing project that I plan to undertake with the assistance of Dr. Fran Kendall. My project will look at the role and functions of the mitochondrial disease nurse specialist, and I hope to be able to demonstrate that the addition of this specialist equates to improved patient care. This project will focus on the identification of patient and provider needs.  I look forward to working with many of you in the next few months!!”

 - Kristi Cole, RN, ASN


Exercise, Exercise, Exercise

Dr. Mark Tarnopolsky at McMaster University in Ontario, Canada is a leader in exercise physiology in mitochondrial patients. Endurance exercise is known to stimulate mitochondrial biogenesis, improve mito function, increase antioxidant protein content and lower oxidative stress.  As a result, exercise is an effective treatment for patients with primary mito disease as well as others with increased oxidative stress such as patients with type II diabetes, obesity, and peripheral vascular disease as well as aging normal adults.  Normal aging adults have been shown to accumulate mtDNA mutations resulting in decreased muscle functioning during the typical aging process. 

In a series of elegant studies, Dr. Tarnopolsky showed that endurance exercise in both older adults and those with sporadic mitochondrial disease (CPEO) or disorders of mtDNA replication showed an increase in mitochondrial capacity following resistance exercise training due to mitochondrial DNA gene shifting. Essentially, exercise “recruited” normal, healthy stem cells that “hang out” on our muscle fibers to produce a repository of healthy mitochondria and improved muscle functioning.  Furthermore, weight training has been shown to be safe and effective and improved mitochondrial capacity in primary mito patients, especially those with sporadic mito disease (CPEO) or disorders of mtDNA replication (POLG1, Twinkle). 

Using a POLG1 mouse model, Dr. Tarnopolsky is now attempting to characterize the serum factors that potentially mediate these positive exercise effects.  This could one day lead to the use of these exercise factors in patients who are physically unable to exercise to promote improved mito functioning.

Medications - take, limit or avoid?

Mitochondrial patients and their physicians are constantly plagued by the question of whether or not they should take a certain medication, limit their exposure to it or avoid it all together.  

The spectrum of drug-induced mitochondrial dysfunction includes many classes of common medications. Because the “machinery” used to replicate mtDNA is very similar to that seen in bacteria, the mitochondria and their replication are very vulnerable to certain antibiotics such as aminoglycosides (e.g. gentamicin).  Replication of the mtDNA is also inhibited by a new class of drugs used to treat AIDS.  The electrochemical gradient maintained inside of the mitochondrial inner membrane that allows for ATP production is vulnerable to many drugs that are weak acids, including over-the-counter drugs such as aspirin.  These drugs can result in excessive free-radical production and uncouple OXPHOS (prevent ATP production).  Iron, Valproic acid, anti-psychotics and others can also have a negative impact on mitochondrial functioning and many anesthetic agents are also known to cause problems.

Physicians and scientists have also come to recognize that mitochondrial toxicity of prescription medication falls on a spectrum where both drug dose and genetic susceptibility play important roles in how a given patient will react to a specific drug exposure.  For example, some medications, if given in toxic doses, are toxic to the mitochondria in anyone, even those without mito or known susceptibility.  Others cause reactions in those who seem to have more susceptible mitochondrial functioning because they harbor variants in any one of their over 1,500 mitochondrial genes that doesn’t result in mito but merely an increased risk for certain drug toxicities.  Regardless, it has become apparent that mitochondrial functioning and toxicity play an important role in pharmacology and have an impact on all of us and may prove to have an even more important role in the future.

Despite the known toxicity of many medications, there are clear cases when certain medications cannot be avoided.  For example, Valproate is often the only drug to prevent ongoing seizures in a patient.  While it has been linked to liver failure in some patients many are treated without any complications or issues.  If you have questions or concerns about a specific medication speak to your treating physician. Several resources for more information include Dr. Katherine Sims of Mass General Hospital’s webcast discussing a number of medications and their effect on mito functioning can be found on the Mito Action websitewww.mitoaction.org/blog/medication-exposures-mitochondrial-toxicity.  Another valuable resource is a book by Pfizer scientist, Dr. Yvonne Will, “Drug Induced Mito Dysfunction.”  She is a leading expert on medication related mito toxity.

Mito Disease Awareness Week

September 18 - September 24, 2011 is International Mitochondrial Disease Awareness Week. During this week we renew our commitment to educate, support, and advocate on behalf of mitochondrial disease patients and their families.

Global Mitochondrial Disease Awareness (www.gmdaw.org): Information on various educational, fundraising and advocacy efforts all designed to raise awareness about mitochondrial disease.

MitoAction (www.mitoaction.org): Join MitoAction in their mission to educate and raise awareness of this disabling disease by wearing a green awareness ribbon and taking steps together for Mito. The MitoAction Energy Walk & 5K Run for Mitochondrial Disease on Sept. 18 kicks off awareness week. On Wednesday, September 21st, families and friends are encouraged to "Light a Light for Mito” in honor of all who are afflicted by Mito and in memory of the babies, children, and adults who have lost their battle with mitochondrial disease.

United Mitochondrial Disease Foundation (www.umdf.org): Various educational, fundraising and advocacy efforts all designed to raise awareness about mitochondrial disease.

Stay in Bed (www.stayinbedday.org): In the spirit of John and Yoko's famous bed-in, people are being urged to take part in the Stay in Bed Day to help find a cure for mitochondrial disease, a debilitating and potentially fatal genetic disorder that robs sufferers of their energy.

Upcoming Lectures & Events For Dr Kendall

Dr. Kendall strongly believes in education and awareness as a critical component in the fight against mitochondrial disease.  Knowledge is power to patients, families and the medical community.

  • September/Atlanta – Overview of Mito for Parent group
  • October/Charlotte – Answering questions as a VIP at the 2nd Annual Carolina Foothills UMDF Walk for Life
  • November/Atlanta – Mitochondrial Overview for Emory School of Nursing Students
  • December/Atlanta – Guest lecturer on Mitochondrial and Genetic medicine for PCOM Medical Students

If you have an event or lecturing opportunity and would like to request our involvement please contact us at info @ vmpgenetics.com