William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Frederick Hecht, MD, FAAP, FACMG
Frederick Hecht, MD, lives in Scottsdale, Arizona. Dr. Hecht is a Pediatrician and Medical Geneticist and is certified by both the American Boards of Pediatrics and Medical Genetics. Dr. Hecht was born and raised in Baltimore and attended Dartmouth College in Hanover, N.H. and the Sorbonne at the University of Paris receiving his BA degree cum laude with distinction from Dartmouth.
What is MELAS?
MELAS is a rare genetic disorder which results in stroke and dementia. MELAS is an abbreviation that stands for Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes.
What causes MELAS?
MELAS syndrome is caused by mutations in the genetic material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell nucleus, some of our DNA is in another important structure called the mitochondrion (plural: mitochondria).
The mitochondria are located outside the nucleus in the cell’s cytoplasm. Each mitochondrion has a chromosome made of DNA that is quite different from the better known chromosomes in the nucleus. The mitochondrial chromosome is much smaller; it is round (whereas the chromosomes in the nucleus are normally shaped like rods); there are many copies of the mitochondrial chromosome in every cell; and no matter whether we are male or female, we inherit all of our mitochondrial chromosome from our mother.
Much of the DNA in our mitochondria is used to manufacture proteins involved in the key function of mitochondria — to produce energy and power the cells in our body.
What are the symptoms of MELAS?
As a result of the disturbed function of their cells’ mitochondria, patients with MELAS develop
- brain dysfunction (encephalopathy) with seizures and headaches,
- as well as muscle disease with a build-up of lactic acid in the blood (a condition called lactic acidosis),
- temporary local paralysis (stroke-like episodes), and
- abnormal thinking (dementia).
How is MELAS diagnosed?
The diagnosis of MELAS is usually suspected on clinical grounds. However, confirmation of the diagnosis usually requires a muscle or brain biopsy. The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes.
When do people with MELAS develop symptoms?
MELAS can affect people at very different times in life, ranging from age 4 to age 40 or more. However, most patients with MELAS syndrome show symptoms before they are 20 years old.
What Is Mitochondrial Encephalopathy, MELAS?
MELAS is the acronym for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes.
MELAS is a form of dementia. It is caused by mutations in the genetic material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell nucleus, another important cell structure that carries DNA is the mitochondrion. Much of the DNA within the mitochondrion is used to manufacture proteins that help in the mitochondrion’s energy-producing function.
As a result of the disturbed function of their cells’ mitochondria, patients with MELAS develop brain dysfunction (encephalopathy) with seizures and headaches, as well as muscle disease with a buildup of lactic acid in the blood (lactic acidosis), temporary local paralysis (strokelike episodes), and abnormal thinking (dementia).
How is MELAS treated?
There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. antioxidants and vitamins have been used, but there have been no consistent successes reported.
Are there other mitochondrial diseases?
Yes, mutations (genetic changes) in the mitochondrial chromosome are responsible for a number of other disorders aside from MELAS such as:
- an important eye disease called Leber hereditary optic atrophy;
- a type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and
- a neuromuscular disease called the Kearns-Sayre syndrome.
MELAS and all other mitochondrial diseases were not well understood before it was discovered that they were due to mutations in the chromosomes of the mitochondria.
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MELAS Syndrome – Treatment
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MELAS Syndrome – When Symptoms Develop
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Top MELAS Syndrome Related Articles
Dementia is defined as a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are several different types of dementia, including cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Encephalopathy means brain disease, damage, or malfunction. Causes of encephalopathy are varied and numerous. The main symptom of encephalopathy is an altered mental state. Other symptoms include:
Treatment of encephalopathy depends on the type of encephalopathy (anoxia, diabetic, Hashimoto’s, hepatic, hyper – hypotensive, infectious, metabolic, infections, uremic, or Wernicke’s) are examples of types of encephalopathy.
Stroke Symptoms and Treatment
A stroke is an interruption of the blood supply to part of the brain caused by either a blood clot (ischemic) or bleeding (hemorrhagic).
Symptoms of a stroke may include:
- double vision or vision loss,
- difficulty speaking or understanding speech.
A physical exam, imaging tests, neurological exam, and blood tests may be used to diagnose a stroke. Treatment may include administration of clot-busting drugs, supportive care, and in some instances, neurosurgery. The risk of stroke can be reduced by controlling high blood pressure, high cholesterol, diabetes, and stopping smoking.
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