Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism

Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism

Abstract Dominant defects in CHCHD10, a mitochondrial intermembrane space protein, lead to a range of neurological and muscle disease phenotypes including amyotrophic lateral sclerosis. Many patients present with spinal muscular atrophy Jokela type (SMAJ), which is caused by heterozygous p.G66V vari...

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Main Authors: Sandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, Minea Rokka, Bowen Hu, Jouni Kvist, Fuping Zhang, Tomáš Zárybnický, Kimmo Haimilahti, Liliya Euro, Eija Pirinen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Emilia Kuuluvainen, Swetha Gopalakrishnan, Pekka Katajisto, Ville Hietakangas, Thibaut Burg, Ludo Van Den Bosch, Xiaoping Huang, Derek P. Narendra, Satu Kuure, Emil Ylikallio, Henna Tyynismaa
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Acta Neuropathologica Communications
Subjects:
CHCHD10
CHCHD2
ALS
Mitochondria
Creatine
Metabolomics
Online Access:https://doi.org/10.1186/s40478-025-02039-3
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