Y. Zhang et al., NO EVIDENCE FOR MUTATIONS IN A PUTATIVE BETA-CELL ATP-SENSITIVE K+ CHANNEL SUBUNIT IN MODY, NIDDM, OR GDM, Diabetes, 44(5), 1995, pp. 597-600
Citations number
20
Categorie Soggetti
Endocrynology & Metabolism","Medicine, General & Internal
The beta-cell ATP-sensitive K+ (K-ATP) channel has a major role in glu
cose-induced insulin secret;ion, Screening the entire coding sequence
of the gene for a putative beta-cell K-ATP channel subunit, K-ATP2, wi
th single-strand conformation polymorphism did not show any mutations
associated with diabetes in white Caucasian diabetic patients, includi
ng five pedigrees with maturity onset diabetes of the young (MODY), 25
patients with noninsulin-dependent diabetes mellitus (NIDDM) selected
for marked beta-cell deficiency, 25 selected for mild diabetes presen
ting before age 50 years with fasting plasma glucose levels <10 mmol/l
, 25 unselected NIDDM patients, and 25 subjects with gestational diabe
tes mellitus (GDM) and subsequent raised fasting plasma glucose, In fi
ve large MODY pedigrees, linkage analysis with simple tandem-repeat po
lymorphisms (STRPs) near the K-ATP2 gene excluded linkage. In a popula
tion association study, no linkage disequilibrium for the STRP was fou
nd between 237 unselected white Caucasian NIDDM patients and 104 geogr
aphically matched and age-matched white Caucasian nondiabetic subjects
, In addition, two silent polymorphisms were found with similar freque
ncy in nondiabetic and diabetic subjects. Mutations in the gene for K-
ATP2 are unlikely to be a major cause of MODY, NIDDM or GDM.