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Increased GABA synthesis in skin fibroblasts of patients with Huntington's disease: a possible role of glutamic acid decarboxylase?
Author(s) -
Gerlach M.,
Kuhn W.,
Müller Th.,
Winkel R.,
Lange H.,
Przuntek H.
Publication year - 1996
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1996.tb00251.x
Subject(s) - glutamate decarboxylase , medicine , glutamic acid , glutamate receptor , disease , carboxy lyases , endocrinology , huntington's disease , biochemistry , amino acid , enzyme , biology , receptor
Activity of glutamic acid decarboxylase (GAD) was determined in extracts from cultured human skin fibroblasts of patients with Huntington's disease (HD) and compared to an age‐ and sex‐matched control group. The fibroblasts were cultured up to eight passages. In patients suffering from HD a significant increased activity of GAD (∼ 3–5 fold compared to age‐ and sex‐matched controls) was found in passages 4–8. This may indicate a defect in the genetic expression of GAD concentration or regulation and/or may indicate that increased levels of glutamate may also be responsible for neuronal degeneration in HD.