Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
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DOI：
10.1159/000517870
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发表时间：
2021
影响因子：
2.9
通讯作者：
Ortiz-González XR
中科院分区：
文献类型：
--
作者：
Ortiz-González XR
线粒体，传统上被视为细胞的动力源的细胞器，越来越多地与各种神经发育障碍有关。尽管个别罕见，但由于临床基因测序和数据分析的进步，在过去的几年里已经发现了无数的儿科神经遗传学疾病。随着这种指数增长的持续，线粒体功能障碍越来越多地与儿童神经发育障碍有关，临床表现从综合征性自闭症、智力残疾和癫痫脑病到儿童发作性神经变性。在这里，我们回顾了最近证明线粒体参与神经发育障碍的证据，确定了新的机制趋势，并根据新的证据重新考虑了线粒体作用的长期问题：因果关系还是仅仅是关联？
Mitochondria, the organelle classically seen as the powerhouse of the cell, are increasingly associated with a wide variety of neurodevelopmental disorders. Although individually rare, a myriad of pediatric neurogenetic disorders have been identified in the last few years thanks to advances in clinical genetic sequencing and data analysis. As this exponential growth continues, mitochondrial dysfunction is increasingly implicated in childhood neurodevelopmental disorders, with clinical presentations ranging from syndromic autism, intellectual disability and epileptic encephalopathies to childhood onset neurodegeneration. Here we review recent evidence demonstrating mitochondrial involvement in neurodevelopmental disorders, identify emerging mechanistic trends and reconsider the long-standing question of the role of mitochondria in light of new evidence: causation versus mere association?
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影响因子：
11
作者：
Devaraju, P.;Yu, J.;Eddins, D.;Mellado-Lagarde, M. M.;Earls, L. R.;Westmoreland, J. J.;Quarato, G.;Green, D. R.;Zakharenko, S. S.
通讯作者：
Zakharenko, S. S.
影响因子：
7.3
作者：
Alston, Charlotte L.;Rocha, Mariana C.;Lax, Nichola Z.;Turnbull, Doug M.;Taylor, Robert W.
通讯作者：
Taylor, Robert W.
影响因子：
4.7
作者：
Carli, Sara;Chaabane, Linda;Frasca, Angelisa
通讯作者：
Frasca, Angelisa
影响因子：
4
作者：
Coskun, Pinar E.;Wyrembak, Joanne;Wallace, Douglas C.
通讯作者：
Wallace, Douglas C.
影响因子：
64.8
作者：
Cunningham, John T.;Rodgers, Joseph T.;Puigserver, Pere
通讯作者：
Puigserver, Pere