期刊
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
卷 48, 期 -, 页码 60-65出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.biocel.2013.12.010
关键词
Mitochondria; Mitochondrial respiratory chain; Oxidative phosphorylation OXPHOS; Fibroblast; Mitochondrial diseases
资金
- Israeli Science Foundation [1462/09]
Mitochondria are intracellular organelles present in all nucleated cells. They perform a number of vital metabolic processes but their main function is to generate energy in the form of ATP by oxidative phosphorylation (OXPHOS), performed by the mitochondrial respiratory chain. Mitochondrial diseases affecting oxidative phosphorylation are a common group of inherited disorders with variable clinical manifestations. They are caused by mutations either in the mitochondrial or the nuclear genome. In order to study this group of heterogeneous diseases, they are often modeled in animal and microbial systems. However, these are complex, time consuming and unavailable for each specific mutation. Conversely, skin fibroblasts derived from patients provide a feasible alternative. The usefulness of fibroblasts in culture to verify and study the pathomechanism of new mitochondrial diseases and to evaluate the efficacy of individual treatment options is summarized in this review. (C) 2014 Elsevier Ltd. All rights reserved.
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