MELAS Syndrome is a rare genetic disorder that results in stroke and dementia. MELAS stands for Mitochondrial Encephalopathy, Lactic acidosis, and Stroke. The condition begins in childhood between the ages of two and fifteen years and mostly affects the nervous system and muscles.
MELAS syndrome is caused by mutations in the genetic material (DNA) in the mitochondria and is inherited from the mother. An affected mother will pass MELAS syndrome on to all her children but only her daughters will pass the mutation on to their children. The condition was first distinguished by the name MELAS Syndrome in 1984.
MELAS syndrome may be diagnosed using a brain or muscle biopsy. A muscle biopsy will show characteristic ragged red fibers while a brain biopsy will show stroke-like changes. Brain imaging techniques such as magnetic resonance imaging (MRI) may also be used to look for stroke-like lesions and magnetic resonance spectroscopy (MRS) may be used to look for a lactate peak in the brain. The condition affects men and women equally.
Brain dysfunction (encephalopathy) with headaches and seizures, abnormal thinking (dementia), muscle disease with a build-up of lactic acid in the blood (lactic acidosis), temporary local paralysis, hormonal imbalances, loss of appetite and recurrent vomiting, heart and kidney problems, loss of bowel control, and hearing loss.
When genes in the mitochondria are changed or are defective, it results in MELAS Syndrome. The mitochondrion are located outside the nucleus of a cell and every cell contains copies of mitochondria chromosomes, which serve to power the cells of our bodies and provide energy. The mitochondria are small and round shaped, unlike the rod shape of normal chromosomes. Regardless of gender, everyone gets their mitochondrial chromosomes from their mother.
MELAS syndrome affects brain function, causing dementia, seizures, headaches, and localized paralysis. It can also cause a buildup of lactic acid (lactic acidosis). The symptoms of MELAS Syndrome can seem similar to those of a stroke, but the two conditions are very different from a physiological perspective. There is no known cause for the genetic mutation responsible for MELAS Syndrome.
Anti-convulsant drugs are used to control seizures associated with MELAS syndrome, cochlear implants have been used to treat sensorineural deafness, moderate treadmill training may improve aerobic activity and lower resting lactate levels, and the use of oral arginine has been shown to reduce the recurrence of stroke-like episodes when administered during the asymptomatic period.
Since MELAS Syndrome is a genetic disorder, there’s currently no way of preventing the disease. Unfortunately, there’s also no known treatment that has been effective in managing the disease or its symptoms, so doctors have instead focused on treating each symptom individually. Even those treatments, which primarily consist of administering enzymes, amino acids, vitamins, and antioxidants, have been met with limited success. There has been some success in treating MELAS Syndrome with CoQ10, Riboflavin, L-arginine and there is hope that these supplements may lead to a long-term treatment method for those suffering from this condition.
Research hasn’t been able to uncover any specific risk factors associated with this illness. People of all races and both genders seem equally at risk of contracting the condition. All that is really known is that MELAS Syndrome is passed down from the mother’s side of the family. With no means of prevention and no reliable ways to treat the illness, MELAS syndrome is fatal with a life expectancy of five years from the initial development of the disease.