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3697G>A in MT-ND1 is a causative mutation in mitochondrial disease

AuthorsSpangenberg, Lucía; Suarez-Rivero, Juan M.; Sánchez-Alcázar, José Antonio ; Naya, Hugo
KeywordsMitochondrial disease
Clinical genomics
Next generation sequencing
Leigh disease
Issue Date2016
CitationMitochondrion 28: 54-59 (2016)
AbstractMitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Using next generation sequencing we found that mutation 3697G > A was responsible for the patient's clinical symptoms. Corroboration was performed via segregation analysis in mother and sister and by evolutionary analysis that showed that the mutation is located in a highly conserved region across a wide range of species. Functional analyses corroborated the mutation effect and indicated that the pathophysiological alterations were partially restored by Coenzyme Q10. In addition, we proposed that the presence of the mutation at high frequencies causes the phenotype in the patient, while other family members with intermediate levels of heteroplasmy are symptoms-free.
Descriptionet al.
Identifiersdoi: 10.1016/j.mito.2016.03.006
e-issn: 1872-8278
issn: 1567-7249
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