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Title

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity onset diabetes of the young (MODY2) patients

AuthorsEstalella, Itziar; García-Gimeno, María Adelaida ; Marina, Alberto ; Castaño, Luis; Sanz, Pascual
KeywordsMODY2
Glucokinase
Inactivating mutation
Enzyme kinetics
Issue Date6-Mar-2008
PublisherSpringer
CitationJournal of Human Genetics 53(5):460-6 (2008)
AbstractMODY2 (mature onset diabetes of the young, type2) is associated with mutations in the GCK gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work we describe the biochemical characterization of six missense glucokinase mutations associated to MODY2 from Spanish patients, namely Y61S, V182L, C233R, E265K, A379V and K420E. All these mutations produced enzymes that presented reduced enzymatic activity in various degrees, from a mild affectation (K420E) to a more severe effect (C233R). The severity of the mutation correlated with the importance of the structural changes introduced by the mutations. For example, the C233R affected a critical residue of the active centre of the enzyme and rendered a protein with undetectable enzymatic activity. These data add new information on the structure-function relationship of human glucokinase.
Description7 páginas, 2 figuras, 3 tablas.
Publisher version (URL)http://dx.doi.org/10.1007/s10038-008-0271-5
URIhttp://hdl.handle.net/10261/112046
DOI10.1007/s10038-008-0271-5
ISSN1434-5161
E-ISSN1435-232X
Appears in Collections:(IBV) Artículos
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