Mitochondrial DNA depletion syndromes - Many genes, common mechanisms

作者：Suomalainen Anu^*; Isohanni Pirjo

来源：Neuromuscular Disorders, 2010, 20(7): 429-437.

DOI：10.1016/j.nmd.2010.03.017

• Mitochondrial DNA
• Mitochondrial DNA depletion syndrome
• Encephalopathy
• Hepatoencephalopathy
• Leigh syndrome
• Alpers syndrome

Mitochondrial DNA depletion syndrome has become an important cause of inherited metabolic disorders, especially in children, but also in adults. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Nine genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. We review here the current knowledge on the clinical and molecular genetic features of mitochondrial DNA depletion syndrome.

• 出版日期2010-7