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Concept
Mitochondrial disease
Summary
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies.
Mitochondrial disease can manifest in many different ways. Examples of mitochondrial diseases include:
Mitochondrial myopathy
Diabetes mellitus and deafness (DAD)
this combination at an early age can be due to mitochondrial disease
Diabetes mellitus and deafness can be found together for other reasons
Leber's hereditary optic neuropathy (LHON)
visual loss beginning in young adulthood
eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina
affects 1 in 50,000 people in Finland
Leigh syndrome, subacute necrotizing encephalomyelopathy
after normal development the disease usually begins late in the first year of life, although onset may occur in adulthood
a rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure
Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
progressive symptoms as described in the acronym
dementia
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
gastrointestinal pseudo-obstruction
neuropathy
MERRF syndrome
progressive myoclonic epilepsy
"Ragged Red Fibers" are clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear when muscle is stained with modified Gömöri trichrome stain
short stature
hearing loss
lactic acidosis
exercise intolerance
MELAS syndrome, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial DNA depletion syndrome
Conditions such as Friedreich's ataxia can affect the mitochondria but are not associated with mitochondrial proteins.
Official source
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