MELAS Syndrome (cont.)
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.
In this Article
- What is MELAS?
- What causes MELAS?
- What are the symptoms of MELAS?
- How is MELAS diagnosed?
- When do people with MELAS develop symptoms?
- How is MELAS treated?
- Are there other mitochondrial diseases?
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).
Next: How is MELAS diagnosed?
Patient Comments
Viewers share their comments
http://www.medicinenet.com/melas_syndrome/article.htm
WebMD Daily
Get breaking medical news.
Updated & New
