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A two‐dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: A prerequisite to study mitochondrial disorders in patients
Author(s) -
Xie Jing,
Techritz Sandra,
Haebel Sophie,
Horn Anke,
Neitzel Heidemarie,
Klose Joachim,
Schuelke Markus
Publication year - 2005
Publication title -
proteomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.26
H-Index - 167
eISSN - 1615-9861
pISSN - 1615-9853
DOI - 10.1002/pmic.200401191
Subject(s) - mitochondrial disease , biology , mitochondrion , phenotype , mitochondrial dna , lymphoblast , mt rnr1 , gel electrophoresis , proteomics , respiratory chain , cell culture , microbiology and biotechnology , mitochondrial respiratory chain , gene , biochemistry , genetics
Mitochondrial diseases may be caused by numerous mutations that alter proteins of the respiratory chain and of other metabolic pathways in the mitochondrium. For clinicians this disease group poses a considerable diagnostic challenge due to ambiguous genotype‐phenotype relationships. Until now, only 30% of the mitochondriopathies can be diagnosed at the molecular level. We therefore need a new diagnostic tool that offers a wide view on the mitochondrial proteins. Here, we present a method to generate a high‐resolution, large‐gel two‐dimensional gel electrophoretic (2‐DE) map of a purified fraction of mitochondrial proteins from Epstein‐Barr virus‐immortalized lymphoblastoid cell line (LCL). LCLs can be easily obtained from patients and control subjects in a routine clinical setting. They often express the biochemical phenotype and can be cultured to high cell numbers, sufficient to gain enough purified material for 2‐DE. In total we identified 166 mitochondrial proteins. Thirteen proteins were earlier not known to be of mitochondrial origin. Thirty‐nine proteins were associated with human diseases ranging from respiratory chain enzyme deficiencies to disorders of β‐oxidation and amino acid metabolism. This 2‐DE map is intended to be the first step to diagnose mitochondrial diseases at the proteomic level.