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We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported. Studies in patients' fibroblasts revealed that MSTO1 protein levels were strongly reduced, the mitochondrial network was fragmented and the fusion events among mitochondria were decreased, confirming the deleterious effect of the identified variants and the role of MSTO1 in modulating mitochondrial dynamics. We also found that MSTO1 is mainly a cytosolic protein. These findings indicate recessive mutations in MSTO1 as a new cause for inherited neuromuscular disorders with multisystem features. This article is protected by copyright. All rights reserved.

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UCL University College London Eprints  


Nasca, A -  Scotton, C -  Zaharieva, I -  Neri, M -  Selvatici, R -  Magnusson, OT -  Gal, A -  Weaver, D -  Rossi, R -  Armaroli, A -  Pane, M -  Phadke, R -  Sarkozy, A -  Muntoni, F -  Hughes, I -  Cecconi, A -  Hajnóczky, G -  Donati, A -  Mercuri, E -  Zeviani, M -  Ferlini, A -  Ghezzi, D - 

Id.: 69877671

Versión: 1.0

Estado: Final

Palabras claveMSTO1, ataxia, mitochondrial dynamics, myopathy, skeletal abnormalities - 

Tipo de recurso: Article  - 

Tipo de Interactividad: Expositivo

Nivel de Interactividad: muy bajo

Audiencia: Estudiante  -  Profesor  -  Autor  - 

Estructura: Atomic

Coste: no

Copyright: sí

Requerimientos técnicos:  Browser: Any - 

Relación: [IsBasedOn] Hum Mutat (2017)

Fecha de contribución: 29-may-2017



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