What are some of the hereditary diseases associated with
mitochondria?
Mitochondria are organelles responsible for energy production in eukaryotic cells.
They contain their DNA, called mtDNA, which is distinct from the nuclear DNA. Due
to its proximity to the electron transport chain, mtDNA is more susceptible to
mutations and damage than nuclear DNA. These mutations can result in a variety of
inherited disorders, known as mitochondrial diseases.
Mitochondrial diseases can affect any part of the body because of the ubiquity of
mitochondria. Symptoms can include muscle weakness, stroke-like episodes,
neurological dysfunction, exercise intolerance, developmental delays, and hearing
loss. The severity of the illnesses varies, but many mitochondrial diseases are
chronic, progressive conditions that can cause significant disability and can be lifethreatening.
Examples of mitochondrial diseases include:
1. Leigh syndrome: This is a rare and progressive neurological disorder that typically
begins in infancy or childhood. It affects the central nervous system and leads to the
degeneration of brain tissue.
2. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS):
This condition typically begins in childhood or early adulthood and is characterized
by a wide range of symptoms, including seizures, muscle weakness, migraines, and
strokes.
3. Mitochondrial myopathy: This is a group of neuromuscular disorders that can
cause muscle weakness, exercise intolerance, and respiratory issues.
Treatment of mitochondrial diseases is mainly supportive and focused on symptom
management. There is currently no cure for these disorders. However, researchers
are exploring various approaches to prevent or treat them, including gene therapy,
pharmacological interventions, and dietary modifications.
References:
1. National Institute of Neurological Disorders and Stroke. Mitochondrial Myopathies
Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/MitochondrialMyopathies-Information-Page.
2. The United Mitochondrial Disease Foundation. What are Mitochondrial Diseases?
https://www.umdf.org/wp-content/uploads/2016/03/What-is-Mitochondrial-Disease.pdf.
3. Genetics Home Reference. Mitochondrial DNA.
https://ghr.nlm.nih.gov/primer/mitochondrialDNA/mutationsanddisorders.