Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5501176 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2017 | 24 Pages |
Abstract
Several observations support the idea that the mutation is pathogenic and involved in the clinical phenotype of the patient: 1) The mutation affected a highly conserved amino acid, 2) A pathogenic mutation in the same amino acid (m.3635G>A, p.Ser110Asn) was previously reported in a patient with LHON syndrome, 3) The mutation is not recorded in the Mitomap or Human Mitochondrial Genome Database, 4) In silico predictors classified the mutation as “probably damaging”, and 5) Cybrids carrying the mutation showed decreased Complex I enzyme activity, lower cell proliferation, and decreased mitochondrial membrane potential relative to control cybrids.
Keywords
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Authors
Lidia Carreño-Gago, Josep Gamez, Yolanda Cámara, Elena Alvarez de la Campa, Juan Sebastian Aller-Alvarez, Dulce Moncho, Maria Salvado, Alicia Galan, Xavier de la Cruz, Tomà s Pinós, Elena GarcÃa-ArumÃ,