| Chapter title |
Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines
|
|---|---|
| Chapter number | 24 |
| Book title |
Mitochondria
|
| Published in |
Methods in molecular biology, March 2017
|
| DOI | 10.1007/978-1-4939-6824-4_24 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-6822-0, 978-1-4939-6824-4
|
| Authors |
Laura S. Kremer, Holger Prokisch |
| Editors |
Dejana Mokranjac, Fabiana Perocchi |
| Abstract |
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. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 22% |
| Student > Master | 3 | 17% |
| Student > Bachelor | 3 | 17% |
| Professor > Associate Professor | 2 | 11% |
| Unspecified | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 3 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 39% |
| Medicine and Dentistry | 4 | 22% |
| Agricultural and Biological Sciences | 2 | 11% |
| Immunology and Microbiology | 1 | 6% |
| Unspecified | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 3 | 17% |