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.
About this result
This page is automatically generated and may contain information that is not correct, complete, up-to-date, or relevant to your search query. The same applies to every other page on this website. Please make sure to verify the information with EPFL's official sources.
Related courses (3)
BIO-603(SK): Practical - Schoonjans Lab
Bile acid signaling. Investigate GPCR-mediated effects of bile acids on mitochondrial function and dynamics.
BIO-109: Introduction to life sciences (for IC)
Ce cours présente les principes fondamentaux à l'œuvre dans les organismes vivants. Autant que possible, l'accent est mis sur les contributions de l'Informatique aux progrès des Sciences de la Vie.
BIO-480: Neuroscience: from molecular mechanisms to disease
The goal of the course is to guide students through the essential aspects of molecular neuroscience and neurodegenerative diseases. The student will gain the ability to dissect the molecular basis of