Mitochondriale Erkrankungen im Erwachsenenalter

The most frequent manifestation of mitochondrial disease in adults is chronic progressive external ophthalmoplegia (CPEO) that can present with variable multisystemic involvement. Molecular genetically single mtDNA deletions are identified in more than half of the patients associated with mainly sporadic CPEO. There are also autosomal dominant and recessive forms of CPEO due to mutations in nuclear genes that are important for mtDNA replication resulting in multiple mtDNA deletions. Other common multisystemic disorders are MELAS syndrome and MERRF syndrome due to maternally inherited mtDNA point mutations. Leber??s hereditary optic neuropathy is a frequent mitochondrial disorder without multisystemic involvement, which is also due to mtDNA point mutations. In addition to classical mitochondrial disorders there are patients with mitochondrial disease showing non-characteristic sometimes monosymptomic phenotypes (e.g. myopathy or epilepsy) that are difficult to recognize.