English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/163126
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Title

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
Heteroplasmy
Clinical genomics
Next generation sequencing
Leigh disease
Issue Date2016
PublisherElsevier
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.
URIhttp://hdl.handle.net/10261/163126
Identifiersdoi: 10.1016/j.mito.2016.03.006
e-issn: 1872-8278
issn: 1567-7249
Appears in Collections:(CABD) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.