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Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
If only a few of the mtDNA copies inherited from the mother are defective, mitochondrial division may cause most of the defective copies to end up in just one of the new mitochondria (for more detailed inheritance patterns, see human mitochondrial genetics). Mitochondrial disease may become clinically apparent once the number of affected ...
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 ...
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 ...
Uniparental inheritance refers to the fact that, in most organisms, many offspring inherit organelle genes from only one parent. However, this is not a general law. Many organisms that have the ability to differentiate maternal and paternal sexes will produce offspring with a mixture of maternal, paternal, and biparental mitochondrial DNA.
Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from a mutation in mitochondrial DNA, which consists of a circular genome. It is associated with the genes MT-TL1, MT-TE, and MT-TK. [1]
A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. [3] The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G.
As mentioned previously, mitochondrial mutations are passed down from a mother to all of her children. However, one child may inherit a greater number of mutated mitochondria than his or her sibling, which explains the possibility for symptoms and disease severity to vary among family members. [ 6 ]