Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
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Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Diagnosis of respiratory chain defects in cultured skin fibroblasts is a difficult diagnostic procedure. We investigated the feasibility of using survival of skin fibroblasts in culture medium with galactose as the major carbon source as a method of quickly diagnosing cell lines that were compromised in oxidative metabolism. We found that cells from patients with most forms of cytochrome oxidase deficiency, cells with complex I deficiency, cells with multiple respiratory chain defects and cells with severe
pyruvate dehydrogenase
(
PDH
) complex deficiency failed to survive when subcultured into galactose (5 mM) medium. Cells from patients with Lebers hereditary optic neuropathy (LHON), Kearns-Sayre syndrome (KSS),
myoclonus
-epilepsy-lactic acidosis-stroke (MELAS), the hepatic form of cytochrome oxidase deficiency, and mild
PDH
complex deficiency survived well in galactose (5 mM)-containing medium. This could be used as a rapid screening test for skin fibroblasts with major oxidative defects.
...
PMID:Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. 132 73
