Diseases mitochondriales
The diseases mitochondriales or mitochondropathies gather a disparate whole of diseases in connection with a respiratory disorder of chain mitochondriale. This disorder is secondary with a change of the nuclear DNA or mitochondrial.
Mechanism
The Mitochondries are intracellular structures responsible for the energy production of those. They have their own DNA. They result always from the mother, the male Gamète bringing in theory only of the nuclear DNA. The transmission of the diseases mitochondriales is thus done only of mother with children.The implication of the mitochondries in the energy line production explains a preferential attack of the bodies strongly depending on the latter: Neuron S, Muscle S…
Description
Certain diseases mitochondriales reach only one body (like the eye in the hereditary optical neuropathy of Leber), but the majority often imply many bodies with neurological and muscular signs in the foreground.
The demonstrations of these diseases occur at any age. Generally, the changes of the nuclear DNA appear earlier than the changes of the DNA mitochondrial.
However, the very great variability of the clinical demonstrations always does not make it possible to pose a precise diagnosis. The most frequent signs of a mitochondropathy are a Ptosis, a external Ophtalmoplégie, a Myopathie or an excessive muscular fatigability, a Cardiomyopathie, a reduction in the vision and hearing, a optical Atrophie, a pigmentary Rétinite or a diabetes.
The neurological signs most frequent are the Encéphalopathie, the epilepsy, the Démence, the Ataxie and of the spastic disorders.
Manifestations of the mitochondropathies
Other more general diseases comprise changes of the DNA mitochondriales, even if the exact role of these last is not known: it is the case in particular of the Parkinson's disease and the Maladie of Alzheimer.
Sources
- Patrick F Chinnery, Mitochondrial Disorders Overview In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.
- '' Mitochondrial disease '', has Schapira, Lancet 2006; 368:70 - 82
Associations
the Heart: http://www.orpha.net/associations/AMMI/pages/accueilpag.html
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