AMPONIN, ELISA JILLIAN E.

BSN 2B

MELAS SYNDROME (MITOCHONDRIA)

First we define what Melas Syndrome is 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.
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

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.

In addition to this, 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).

In conclusion to this, Diagnosis of MELAS usually begins with a physical exam and a review of the
patient's medical history and symptoms. The only way to positively diagnose MELAS is through genetic
testing. Clinical tests to help diagnose the condition may include imaging, muscle biopsies, or measuring
lactic acid in the muscles.

Imaging tests, such as magnetic resonance imaging (MRI), can help the medical team better understand
what is going on inside the body.

A muscle biopsy also may be performed. During a biopsy, the medical team will use a needle to remove a
small amount of tissue that they will then study under a microscope. If the patient has MELAS, the biopsy
tissue will show ragged red fibers.

There is no cure for MELAS. Treatment for the condition varies and focuses on managing the symptoms
of the condition.
Anticonvulsant medications are often used to prevent seizures that can occur with MELAS. For patients
who have experienced hearing loss, cochlear implants may be used to restore some hearing ability. Some
medications, including coenzyme q10 and L-carnitine, can help increase the energy output of
mitochondria and slow the progression of the disorder.

References:

 Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, Evans HJ, Harris A, Lackie
P, Packham S, Page A, Thompson J, Walker WT, Kuehni C, Lucas JS. Accuracy of diagnostic
testing in primary ciliary dyskinesia. Eur. Respir. J. 2016 Mar;47(3):837-48.
 https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/melas.html
 https://www.medicinenet.com/melas_syndrome/article.htm?
fbclid=IwAR3IQfHsNfXmlRczMsuLn9Uj47t1U5th99rxFpamJWS81UjdNZnmLi24ZhQ
 https://newsinhealth.nih.gov/2010/04/when-cells-face-energy-crisis#:~:text=Malfunctioning
%20mitochondria%20have%20been%20linked,common%20diseases%2C%E2%80%9D%20says
%20Dr.