MELAS SYNDROME

Overview and Facts

Mitochondrial encephalopathy, lactic acidosis, and stroke or commonly known as Melas Syndrome , is a rare genetic disorder which results in stroke and dementia.

The DNA is found in the chromosomes in the cell nucleus, while some are in another vital structure called the mitochondrion (plural: mitochondria). Consequently, MEDAS is caused by mutations of the DNA in the mitochondria.

Mitochondria are found out of reach of the nucleus in the cell’s cytoplasm. With each mitochondrion containing a chromosome constructed by DNA and slightly different from the chromosomes in the core, mitochondrial chromosomes are round and smaller compared to a rod-like shape of chromosomes in the nucleus. There are several copies of the mitochondrial chromosome in every cell that we inherited from our maternal parent, regardless of sexual orientation (male or female).

Energy and protein production is the critical function of the DNA found in our mitochondria that helps to power the cells in our body.

Types and Symptoms

SYMPTOMS

People with MEDAS develop the following symptoms as a result of the disturbance of cells’ mitochondria function and are listed below:

Seizures and headaches along with brain dysfunction or encephalopathy
A build-up of lactic acid in the blood along with muscle disease
Stroke-like episodes or temporary local paralysis
Dementia or abnormal thinking

Development of Symptoms

Although they might be affected at different times in life, people aged 4 to 40 or even above are susceptible to MELAS. But on average, most patients develop symptoms of MELAS syndrome before the age of 20.

Diagnosis & Medications

DIAGNOSIS

Generally, patients subject to this disease require a muscle or brain biopsy. A muscle biopsy will show characteristics of ragged red fibers while a brain biopsy will show stroke-like changes in the brain.

TREATMENT

This progressive and fatal disease has no known treatment. Still, patients are managed by the use of vitamins and oxidants grounded by the specific areas of the body affected by the disease. However, there is no record of consistency in success.

Other Mitochondrial Diseases

Some other disorders aside from MELAS is caused by genetic changes in the mitochondrial chromosome such as;

Leber hereditary optic atrophy, an essential type of eye disease;
Epilepsy called Myoclonus Epilepsy with Ragged Red Fibers or MERRF; and
Kearns-Sayre syndrome, a neuromuscular disease

Melas syndrome is now recognized as mutations in the chromosomes of the mitochondria, but before discovery, causes of MELAS and other mitochondrial diseases were unknown.

MELAS SYNDROME

Overview and Facts

Types and Symptoms

Diagnosis & Medications

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