| Chapter title |
Nuclear gene defects in mitochondrial disorders.
|
|---|---|
| Chapter number | 2 |
| Book title |
Mitochondrial Disorders
|
| Published in |
Methods in molecular biology, January 2012
|
| DOI | 10.1007/978-1-61779-504-6_2 |
| Pubmed ID | |
| Book ISBNs |
978-1-61779-503-9, 978-1-61779-504-6
|
| Authors |
Scaglia F, Fernando Scaglia |
| Abstract |
Most mitochondrial cytopathies in infants are caused by mutations in nuclear genes encoding proteins targeted to the mitochondria rather than by primary mutations in the mitochondrial DNA. Over the past few years, the awareness of the number of disease-causing mutations in different nuclear genes has grown exponentially. These genes encode the various subunits of each respiratory chain complex, the ancillary proteins involved in the assembly of these subunits, proteins involved in mitochondrial DNA replication and maintenance, proteins involved in mitochondrial protein synthesis, and proteins involved in mitochondrial dynamics. This increased awareness has added a challenging dimension to the current diagnostic workup of mitochondrial cytopathies. The advent of new technologies such as next-generation sequencing should facilitate the resolution of this dilemma. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 9 | 31% |
| Researcher | 6 | 21% |
| Professor > Associate Professor | 3 | 10% |
| Other | 2 | 7% |
| Student > Master | 2 | 7% |
| Other | 2 | 7% |
| Unknown | 5 | 17% |
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|---|---|---|
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| Social Sciences | 1 | 3% |
| Other | 3 | 10% |
| Unknown | 4 | 14% |