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Identification of disease-causing mutations by functional complementation of patient-derived fibroblast cell lines.

Methods Mol. Biol. 1567, 391-406 (2017)
Open Access Green as soon as Postprint is submitted to ZB.
Diagnosis of mitochondrial disorders is still hampered by their phenotypic and genotypic heterogeneity. In many cases, exome sequencing, the state-of-the-art method for genetically diagnosing mitochondrial disease patients, does not allow direct identification of the disease-associated gene but rather results in a list of variants in candidate genes. Here, we present a method to validate the disease-causing variant based on functional complementation assays. First, cell lines expressing a wild-type cDNA of the candidate genes are generated by lentiviral infection of patient-derived fibroblasts. Next, oxidative phosphorylation is measured by the Seahorse XF analyzer to assess rescue efficiency.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Disease-associated Gene ; Exome Sequencing ; Functional Complementation ; Mitochondrial Disorders ; Oxygen Consumption Rate
ISSN (print) / ISBN 1064-3745
e-ISSN 1940-6029
Conference Title Mitochondria
Quellenangaben Volume: 1567, Issue: , Pages: 391-406 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Berlin [u.a.]
Reviewing status Peer reviewed