Mitochondrial disease

Name Mitochondrial encephalomyopathy, lactic acidosis, and

stroke-like episodes (MELAS) (“Mitochondrial
encephalomyopathy”)

Causes MELAS is caused by genetic factors. Usually inherited

from the mother, MELAS most commonly happens
because of mutation adenine or thymine in the MTTL1
gene in tRNA of mitochondria (“Melas Syndrome -
StatPearls”). Since tRNA is involved in the protein
production (it’s different from mRNA and rRNA), a
mutation in tRNA prevents the proper production and
assemblage of proteins into complexes necessary for
mitochondrial functioning. MELAS can happen due to
random mutation as well, though this is very rare (“Melas
Syndrome - StatPearls”).

Symptoms of organism/cell Nervous and muscular systems are most affected. Other
symptoms include muscle weakness, growth
impairments, seizures, vomiting, epilepsy, and lactic
acidosis (which can be life-threatening) (“Melas
Syndrome - StatPearls”).

Effects on mitochondria Research suggests that MELAS interferes with oxidative

phosphorylation and protein chain function
(“Mitochondrial encephalomyopathy”). Both of these are
processes involved in energy production in the
mitochondria of a cell.

Treatments Put simply, there is no medicine to treat MELAS

(“Mitochondrial encephalomyopathy”). Medicine is
often used to treat the symptoms (e.g. antiepileptics
drugs), but nothing promising is out there that will
directly counteract the disease (“Mitochondrial
encephalomyopathy”).

Number of affected people The most common mitochondrial disease, MELAS has an
 incidence rate of 0.025%, or about 1 in 4000 people
(“Mitochondrial encephalomyopathy”).

Normal function of mitochondria

Mitochondria take glucose and oxygen and make adenosine triphosphate, a molecule
used for energy in cellular processes and metabolism. Carbon dioxide and water are
released as byproducts.

Works Cited

“Melas Syndrome - StatPearls.” NCBI, 4 July 2022,

https://www.ncbi.nlm.nih.gov/books/NBK532959/. Accessed 7 October 2022.

“Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.”

MedlinePlus, 1 December 2013,

https://medlineplus.gov/genetics/condition/mitochondrial-encephalomyopathy-la

ctic-acidosis-and-stroke-like-episodes/. Accessed 7 October 2022.