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

doi:10.1038/s44321-024-00147-6

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Article

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

EMBO molecular medicine - 1 Nov 2024

Rydzanicz Małgorzata, Kuzniewska Bozena, Magnowska Marta, Wójtowicz Tomasz, Stawikowska Aleksandra, Hojka Anna, Borsuk Ewa, Meyza Ksenia, Gewartowska Olga, Gruchota Jakub, Miłek Jacek, Wardaszka Patrycja, Chojnicka Izabela, Kondrakiewicz Ludwika, Dymkowska Dorota, Puścian Alicja, Knapska Ewelina, Dziembowski Andrzej, Płoski Rafał, Dziembowska Magdalena

Abstract excerpt

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 chaperone of the HSP90 family. Additional screening of 176 unrelated ASD probands revealed an identical TRAP1 variant in a...

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PMID: 39333440
DOI: 10.1038/s44321-024-00147-6
PMCID: PMC11554806

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TRAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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