线粒体是神经病变的遗传学基础

Title:Genetic Basis of Mitochondrial Optic Neuropathies

Volume: 14 Issue: 8

Author(s): A. Maresca, L. Caporali, D. Strobbe, C. Zanna, D. Malavolta, C. La Morgia, M.L. Valentino and V. Carelli

Affiliation:

关键词: 显性视神经萎缩，环境诱因，基因修饰，Leber遗传性视神经病变，Leber遗传性视神经病变，线粒体DNA，OPA1，视神经病变。

摘要: Over two decades have elapsed since the first mtDNA point mutation was associated with Leber’s hereditary optic neuropathy (LHON) in 1988. We have subsequently witnessed a substantial understanding of the molecular basis of hereditary optic neuropathies, as well as of their clinical features and pathogenic mechanisms. It became clear that the large majority of genetic optic neuropathies have a primary or an indirect involvement of mitochondrial functions, justifying the definition of “mitochondrial optic neuropathies”. Despite this progress many unsolved features remain to be understood, such as incomplete penetrance and variable clinical expressivity in LHON and dominant optic atrophy (DOA), gender prevalence in LHON, and complex gene/environment interactions in both LHON and DOA. The most recent advancement in our understanding of the molecular basis of mitochondrial optic neuropathies is the topic of this review. In particular, we analyze the role that mitochondrial biogenesis may play in the compensatory mechanisms that underlie incomplete penetrance and clinical expressivity, a scenario relevant for the possible design of future therapeutic approaches.

Cite this article as:

Maresca A., Caporali L., Strobbe D., Zanna C., Malavolta D., Morgia La C., Valentino M.L. and Carelli V., Genetic Basis of Mitochondrial Optic Neuropathies, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010132627