科研之友
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摘要
Mitochondriopathies in childhood represent rather frequent inborn errors of energy metabolism with a broad clinical and genetic spectrum mostly involving several different organs. There are few typical mitochondrial syndromes. The majority of the patients however presents a combination of suspicious but unspecific symptoms that frequently affect the CNS. Only a useful combination of clinical, biochemical, morphological and molecular genetic methods leads to a specific diagnosis. The biochemical analysis of the mitochondrial function in affected tissue (e.g. fresh muscle) plays a central role. New technologies in molecular genetics like next generation sequencing have allowed the identification of a considerable number of new disease genes and have contributed to the understanding of pathomechanisms in mitochondrial diseases. Hopefully this will also provide the basis for the development of new therapeutic approaches as therapy is still mostly symptomatic and not very successful.
- 出版日期2012-9
