科研之友
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摘要
Disorders of mitochondrial energy metabolism are a clinically, biochemically and genetically heterogeneous group of diseases with mutations in more than 250 genes. Gene defects are located in the mitochondrial genome, but the majority affect the nuclear genome. Due to the distribution of mutations on numerous genes, mitochondrial disorders played a pioneering role in the introduction of next generation sequencing into clinical practice, whereby exome sequencing is currently the method of choice. Functional tests are still important, especially the biochemical measurement of fresh or frozen tissue samples and the histological examination, but increasingly as second-line investigations. They are often essential to confirm the genetic results and continue to be important as the initial investigation in acute patients. It is important to point out that mutations can occur in a tissue-specific way and that mutations of mitochondrial DNA are not always detectable in blood. Therapy for mitochondrial disorders is still mostly limited to symptomatic treatment. Only in few cases, especially in cofactor-dependent disorders, can detectable therapeutic effects be achieved. The development of numerous protein replacement and gene therapy approaches is encouraging. The donation of oocyte mitochondria has received particular attention. This method has recently been approved in the UK and can be used to prevent the inheritance of mutations in mitochondrial DNA.
- 出版日期2015-10
