Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
Resumen: Oxidative phosphorylation dysfunction has been found in many different disorders. This biochemical pathway depends on mitochondrial protein synthesis. Thus, mutations in components of the mitochondrial translation system can be responsible for some of these pathologies. We identified a new homozygous missense mutation in the mitochondrial translation elongation factor Ts gene in a patient suffering from slowly progressive childhood ataxia and hypertrophic cardiomyopathy. Using cell, biochemical and molecular-genetic protocols, we confirm it as the etiologic factor of this phenotype. Moreover, as an important functional confirmation, we rescued the normal molecular phenotype by expression of the wild-type TSFM cDNA in patient''s fibroblasts. Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors.
Idioma: Inglés
DOI: 10.1038/ejhg.2016.124
Año: 2017
Publicado en: European Journal of Human Genetics 25 (2017), 153-156
ISSN: 1018-4813

Factor impacto JCR: 3.636 (2017)
Categ. JCR: GENETICS & HEREDITY rank: 54 / 171 = 0.316 (2017) - Q2 - T1
Categ. JCR: BIOCHEMISTRY & MOLECULAR BIOLOGY rank: 94 / 292 = 0.322 (2017) - Q2 - T1

Factor impacto SCIMAGO: 1.842 - Genetics (clinical) (Q1) - Genetics (Q1)

Financiación: info:eu-repo/grantAgreement/ES/FIS/PI14-00005
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI14-00070
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI13-02177
Tipo y forma: Article (PostPrint)
Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)


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