Powering Up: WBV for Mitochondrial Disease Patients

Do you ever wonder how the human body generates power? Inside of each of our cells, there are tiny organs called mitochondria which are primarily responsible for making energy in the form of the chemical adenosine triphosphate, also known as ATP. With the exception of red blood cells, every cell in our body contains a certain number of mitochondria depending on how many are necessary to maintain that particular cell’s function. Known as the powerhouses of the cells, the mitochondria drive over 90% of our energy production. They also play a role in our metabolism, in the process of manufacturing our genetic material (RNA and DNA), and in specialized cell functions.

Mitochondrial diseases are caused by inherited or spontaneous genetic defects within the nuclear DNA or in the DNA within the mitochondria themselves. These changes disrupt the ability of the genes to generate the proteins that are needed to make ATP. As a result, the mitochondria are unable to function properly and cell death occurs, which can lead to total organ failure. Generally, if a person exhibits dysfunction of three or more organ systems, mitochondrial disease must be ruled out. While these disorders are typically present at birth or develop in childhood, the onset of disease in adulthood has become more common.

Diagnosis is often elusive due to the variability of the disease presentation. As a result, it may take years for a person to receive an accurate diagnosis, and misdiagnosis is not uncommon since most physicians do not have expertise in this area. The process is lengthy and involved, requiring a thorough physical exam as well as a battery of tests, including comprehensive bloodwork and urinalysis. Physicians may also order an EKG, brain MRI, spinal tap, muscle biopsy, and genetic testing to further determine the exact nature of the condition. These procedures serve to confirm a clear diagnosis, which is crucial in identifying the most appropriate course of care.

The manifestation of mitochondrial disease is different in each person depending on which organs are involved. The heart, brain, lungs, liver, muscles, eyes and ears are the most affected as these parts of the body require the greatest amount of energy to function properly. Symptoms are widespread, including but not limited to developmental delays, seizures, gastrointestinal issues, weakness, visual disturbances, and cardiac dysfunction. According to the Cleveland Clinic, one out of every 5,000 people has a genetic mitochondrial disease. One of the most common types is Leigh syndrome (LS), which is typically diagnosed in childhood. This form is characterized by progressive motor and mental decline and usually reveals itself during the child’s first year of life, culminating in early death from respiratory failure. Although most individuals with LS do not survive past the age of three, there are some patients who live into their mid-teenage years. While some forms of mitochondrial disease are correlated with short life expectancy, not all of them share such a grim prognosis. There are hundreds of types that are managed through diet, vitamin and supplement prescription, and medication.

What other interventions can the medical community offer to patients with mitochondrial conditions? Adults often experience rapid deterioration of physical function which affects their ability to maintain an active lifestyle. The symptoms associated with multi-organ dysfunction make it especially difficult to perform the recommended resistance and endurance exercises. Exercise tolerance is limited due to fatigue, muscle weakness, and respiratory issues. Obesity is also more prevalent in this population, which further hinders activity. For patients who are diagnosed in adulthood, the focus of providers must shift to address the impact of these diseases on their quality of life, rather than just on survival.

While studies have supported that reversing sedentary habits can improve mitochondrial function, the greatest challenge for these patients lies in finding a tolerable and sustainable way to exercise. Whole-body vibration (WBV) is a unique, time-saving method that induces involuntary muscle contractions. It can be used to address a wide variety of issues associated with a sedentary lifestyle, including muscle weakness, limited endurance, poor flexibility, and fatigue. Due to the extensive recruitment of muscle fibers in a short period of time, exercise can be accomplished in a more efficient manner than traditional approaches.

How can people with mitochondrial disease benefit from whole-body vibration? A pilot study was conducted in 2017 which recruited patients aged 3 to 80 with various types of the condition. WBV was administered on a pivotal (side-alternating) unit over a period of 12 weeks, starting at 5 Hz and increasing to 20 Hz by week five. Peak jump power (PJP) was determined using a force plate and was assessed four times throughout the investigation as a representation of walking capability. All patients received WBV and also participated in a control phase which involved standing with flexed knees in the absence of vibration, preceded or followed by a washout period with no treatment. The results showed a statistically significant improvement in the PJP values after receiving WBV as compared to the control period. Furthermore, the outcomes from the control phase of this trial were compared to the PJP results from seventeen other patients with mitochondrial diseases who were followed in the clinic over a long period of time. A similar degree of decline in muscular function was appreciated as compared to this cohort, which further highlighted the positive changes elicited by WBV.

Employing cutting edge technology is a crucial component in the management of chronic and progressive medical conditions. WBV offers a realistic solution to enhance mobility, which is a key factor in improving function and quality of life for individuals suffering from debilitating diseases. While the research on WBV and mitochondrial disease is in its early stages, the positive effects yielded from this preliminary study support the need for continued exploration of its potential to help this population. For individuals who contend with the challenges of mitochondrial disease, WBV can offer hope that the possibility of better function is within their reach.

References:

Habitual Physical Activity in Mitochondrial Disease. Public Library of Science One. Apabhai et al, 2011.

Side Alternating Vibration in Mitochondrial Disease: A Pilot Study. Archives of Physiotherapy. Newell et al, 2017.

Cleveland Clinic
https://my.clevelandclinic.org/health/diseases/15612-mitochondrial-diseases

National Institutes of Health – US National Library of Medicine
https://ghr.nlm.nih.gov/condition/leigh-syndrome

National Institute of Neurological Disorders and Stroke
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mitochondrial-Myopathy-Fact-Sheet

United Mitochondrial Disease Foundation
https://www.umdf.org