摘要
至第一个线粒体DNA点突变在1988年证实与Leber遗传性视神经病变(LHON)有关以来,已经过去了二十多年。随后,我们对遗传性视神经病变分子基础以及他们的临床特征和发病机制有了相当的了解。很明显,绝大多数的遗传视神经病变有原发性的或间接的影响线粒体功能,证明了“线粒体视神经病变”的定义。尽管这些进展中有许多未解决的特征仍然需要被解释,例如在LHON和显性视神经萎缩(DOA)的不完全外显率和可变的临床表现力,在LHON中的性别患病率和在LHON和DOA中复杂的基因/环境的相互作用。这篇综述的主题是线粒体视神经病变的分子基础的最新研究进展。尤其是我们分析了线粒体生物合成在强调不完全外显率和可变的临床表现补偿机制中的作用,及其在未来治疗方法的可行设计。
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。
Current Molecular Medicine
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.
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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
DOI https://dx.doi.org/10.2174/1566524014666141010132627 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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