Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males

Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males

Abstract There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a postzygotic mosaic mutation p.Q639* in the TRAP1 gene, which encodes a mitochondrial...

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Main Authors: Małgorzata Rydzanicz, Bozena Kuzniewska, Marta Magnowska, Tomasz Wójtowicz, Aleksandra Stawikowska, Anna Hojka, Ewa Borsuk, Ksenia Meyza, Olga Gewartowska, Jakub Gruchota, Jacek Miłek, Patrycja Wardaszka, Izabela Chojnicka, Ludwika Kondrakiewicz, Dorota Dymkowska, Alicja Puścian, Ewelina Knapska, Andrzej Dziembowski, Rafał Płoski, Magdalena Dziembowska
Format: Article
Language:English
Published: Springer Nature 2024-09-01
Series:EMBO Molecular Medicine
Subjects:
Trap1
Autism
Mitochondria
Mouse Model
Synapses
Online Access:https://doi.org/10.1038/s44321-024-00147-6
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https://doi.org/10.1038/s44321-024-00147-6

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