mitochondrial DNA diseases

mitochondrial DNA diseases

Diseases caused by mutations in MITOCHONDRIAL DNA (mtDNA) or by nuclear DNA mutations affecting components in mitochondrial processes. Because both mitochondrial and nuclear genes may be involved, inheritance may be maternal or Mendelian. They are all rare. Pure mitochondrial diseases caused by point mutations include LEBER'S HEREDITARY OPTIC NEUROPATHY; RAGGED RED FIBRES; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS); and neurogenic weakness with ataxia and RETINITIS PIGMENTOSA (NARP). Major rearrangements of mitochondrial DNA cause the KEARNS-SAYRE PHENOTYPE; chronic progressive external ophthalmoplegia; PEARSON'S SYNDROME; and excessive ageing.
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