Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
作者： Cristiane Benincá , Vanessa Zanette , Michele Brischigliaro , Mark Johnson , Aurelio Reyes
DOI: 10.1136/JMEDGENET-2020-106861
关键词:
摘要: Background Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in inner mitochondrial membrane (IMM). The contact site and organising system (MICOS) complex is known as ‘mitoskeleton’ due to its role maintaining IMM architecture. APOO encodes MIC26, a component MICOS, whose exact function maintenance or assembly has still not been completely elucidated. Methods We have studied family which most affected subject presented progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal body temperature dysautonomia, repetitive infections, cognitive impairment autistic behaviour. Other members showed variable phenotype presentation. Whole exome sequencing was used screen for pathological variants. Patient-derived skin fibroblasts were confirm pathogenicity variant found APOO. Knockout models Drosophila melanogaster Saccharomyces cerevisiae employed validate MIC26 involvement MICOS function. Results A likely pathogenic c.350T>C transition predicting an I117T substitution MIC26. mutation caused impaired processing protein during import faulty insertion into IMM. This associated with altered cristae junction disruption. corresponding complete loss structural functional deficiencies yeast D. models. Conclusion first case APOO, causing neuromuscular impairment. involved stability humans, flies.
sci-hub.st 参考文章(51)
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O’Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur, Exome Aggregation Consortium, Analysis of protein-coding genetic variation in 60,706 humans Nature. ,vol. 536, pp. 285- 291 ,(2016) , 10.1038/NATURE19057
R. N. Lightowlers, R. W. Taylor, D. M. Turnbull, Mutations causing mitochondrial disease: What is new and what challenges remain? Science. ,vol. 349, pp. 1494- 1499 ,(2015) , 10.1126/SCIENCE.AAC7516
Avraham Zeharia, Jonathan R Friedman, Ana Tobar, Ann Saada, Osnat Konen, Yacov Fellig, Avraham Shaag, Jodi Nunnari, Orly Elpeleg, Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. European Journal of Human Genetics. ,vol. 24, pp. 1778- 1782 ,(2016) , 10.1038/EJHG.2016.83
Daniel Poveda-Huertes, Patrycja Mulica, F. Nora Vögtle, The versatility of the mitochondrial presequence processing machinery: cleavage, quality control and turnover Cell and Tissue Research. ,vol. 367, pp. 73- 81 ,(2017) , 10.1007/S00441-016-2492-9
Pei-I Tsai, Chin-Hsien Lin, Chung-Han Hsieh, Amanda M Papakyrikos, Min Joo Kim, Valerio Napolioni, Carmen Schoor, Julien Couthouis, Ruey-Meei Wu, Zbigniew K Wszolek, Dominic Winter, Michael D Greicius, Owen A Ross, Xinnan Wang, None, PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions Molecular Cell. ,vol. 69, pp. 744- 756 ,(2018) , 10.1016/J.MOLCEL.2018.01.026
J. Gödiker, M. Grüneberg, I. DuChesne, J. Reunert, S. Rust, C. Westermann, Y. Wada, G. Classen, C. D. Langhans, K. P. Schlingmann, R. J. Rodenburg, R. Pohlmann, T. Marquardt, QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation Journal of Human Genetics. ,vol. 63, pp. 707- 716 ,(2018) , 10.1038/S10038-018-0442-Y
Sylvie Callegari, Tobias Müller, Christian Schulz, Christof Lenz, Daniel C. Jans, Mirjam Wissel, Felipe Opazo, Silvio O. Rizzoli, Stefan Jakobs, Henning Urlaub, Peter Rehling, Markus Deckers, A MICOS-TIM22 Association Promotes Carrier Import into Human Mitochondria. Journal of Molecular Biology. ,vol. 431, pp. 2835- 2851 ,(2019) , 10.1016/J.JMB.2019.05.015
Arun Kumar Kondadi, Ruchika Anand, Sebastian Hänsch, Jennifer Urbach, Thomas Zobel, Dane M. Wolf, Mayuko Segawa, Marc Liesa, Orian S. Shirihai, Stefanie Weidtkamp-Peters, Andreas S. Reichert, Cristae undergo continuous cycles of fusion and fission in a MICOS-dependent manner bioRxiv. pp. 654541- ,(2019) , 10.1101/654541
Michele Brischigliaro, Samantha Corrà, Claudia Tregnago, Erika Fernandez-Vizarra, Massimo Zeviani, Rodolfo Costa, Cristiano De Pittà, Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster. Frontiers in Physiology. ,vol. 10, pp. 1143- 1143 ,(2019) , 10.3389/FPHYS.2019.01143
Michael Beck, Timothy M. Cox, Comment: Why are females with Fabry disease affected? Molecular genetics and metabolism reports. ,vol. 21, pp. 100529- ,(2019) , 10.1016/J.YMGMR.2019.100529