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Mitochondrial disorders may be caused by mutations (acquired or inherited), in mitochondrial DNA (mtDNA), or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs , infections , or other environmental causes.
Because mitochondrial diseases (diseases due to malfunction of mitochondria) can be inherited both maternally and through chromosomal inheritance, the way in which they are passed on from generation to generation can vary greatly depending on the disease. Mitochondrial genetic mutations that occur in the nuclear DNA can occur in any of the ...
It is an important factor in considering the severity of mitochondrial diseases. Because most eukaryotic cells contain many hundreds of mitochondria with hundreds of copies of mitochondrial DNA, it is common for mutations to affect only some mitochondria, leaving most unaffected.
There is evidence of both homoplasmic and heteroplasmic inherited mutations that lead to disease, though heteroplasmic mutations typically are a precursor to homoplasmic disease. [ 6 ] [ 7 ] Many diseases resulting from mutations in mitochondrial DNA are not inherited but developed as the untranslated region of mitochondrial DNA (mtDNA) is ...
Mitochondrial diseases are inherited from the mother, not from the father. Mitochondria with their mitochondrial DNA are already present in the egg cell before it gets fertilized by a sperm. In many cases of fertilization, the head of the sperm enters the egg cell; leaving its middle part, with its mitochondria, behind.
Genetic mutations leading to mitochondrial encephalopathies can be inherited at birth or arise throughout the course of one’s life through acquired or “somatic” mutations. [1] There are over 300 known genetic defects that can result in the manifestation of these disorders.
Primary mitochondrial myopathies are inherited, while secondary mitochondrial myopathies may be inherited (e.g. Duchenne's muscular dystrophy) [3] or environmental (e.g. alcoholic myopathy [4] [5]). When it is an inherited primary disease, it is one of the metabolic myopathies. [6] [4]
However, there has been only a single documented case among humans in which as much as 90% of a single tissue type's mitochondria was inherited through paternal transmission. [19] According to the 2005 study More evidence for non-maternal inheritance of mitochondrial DNA?, [20] heteroplasmy is a "newly discovered form of inheritance for mtDNA ...
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