Mitochondrial Genomics: A complex field now coming of age.
Mitochondrial Genomics: A complex field now coming of age.
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DOI：
10.1007/s40142-018-0137-x
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发表时间：
2018-06
影响因子：
2.1
通讯作者：
Falk MJ
中科院分区：
文献类型：
--
作者：
McCormick EM;Muraresku CC;Falk MJ
The groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the largest class of inherited metabolic disease affecting at least 1 in 4,300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology. Markedly improved understanding of the highly diverse molecular etiologies of multi-systemic phenotypes in primary mitochondrial disease has resulted from massively parallel genomic sequencing technologies and improved bioinformatic resources that enable identification in individual patients of their disease’s precise genetic etiology. Key informatics resources of particular utility to the mitochondrial disease genomics community have been developed, including: (1) Mitocarta 2.0 repository of 1200+ verified mitochondria-localized proteins, (2) MITOMAP Web resource of curated mtDNA genome variants, and (3) Mitochondrial Disease Sequence Data Resource (MSeqDR) that centralizes Web curation and annotation of mitochondrial disease genes and variants in both genomes, ontology-defined phenotypes, and access to many analytic tools to support genomic data mining and interpretation. Gene and mutation-based disease categorization has proven particularly useful to identify the full clinical spectrum of disease that may affect a given individual. Extensive genomic advances, both in technologic platforms and bioinformatics resources, have facilitated dramatic improvement in the accurate recognition and understanding of primary mitochondrial disease.
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影响因子：
3.9
作者：
BROWN, MD;TORRONI, A;WALLACE, DC
通讯作者：
WALLACE, DC
影响因子：
14.9
作者：
Damas J;Carneiro J;Amorim A;Pereira F
通讯作者：
Pereira F
影响因子：
9.9
作者：
Kaufmann, P.;Engelstad, K.;De Vivo, D. C.
通讯作者：
De Vivo, D. C.
影响因子：
158.5
作者：
EGGER, J;WILSON, J
通讯作者：
WILSON, J
影响因子：
3.8
作者：
Falk MJ;Shen L;Gonzalez M;Leipzig J;Lott MT;Stassen AP;Diroma MA;Navarro-Gomez D;Yeske P;Bai R;Boles RG;Brilhante V;Ralph D;DaRe JT;Shelton R;Terry SF;Zhang Z;Copeland WC;van Oven M;Prokisch H;Wallace DC;Attimonelli M;Krotoski D;Zuchner S;Gai X;MSeqDR Consortium Participants;MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,;Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,;Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,;Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,;Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
通讯作者：
Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong