Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.
Diabetes Res Clin Pract
; 85(1): 20-3, 2009 Jul.
Article
en En
| MEDLINE
| ID: mdl-19410318
ABSTRACT
Maturity onset diabetes of the young (MODY) is a genetically heterogeneous disorder characterized by autosomal dominant inheritance, altered function of pancreatic beta cells and early onset diabetes mellitus, usually before 25 years old. The prevalence of specific mutations of MODY genes differs considerably among different countries. In this study we analyzed 53 index cases from unrelated MODY families who are potential carriers of mutations in GCK gene. In addition, 122 relatives were also studied. We have identified eight new mutations in the GCK gene. One of them is a non-frameshift deletion involving Lysine 143. This amino acid is part of the conserved stretch of basic residues (KHKKL) which spans from residue 140 to 144. The non-frameshift deletion might implicate the affinity of GCK for GCKRP, and potentially the abnormal nuclear localization of GCK. Additional studies should be performed to confirm this possibility.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diabetes Mellitus Tipo 2
/
Glucoquinasa
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Adolescent
/
Adult
/
Animals
/
Child, preschool
/
Female
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Humans
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Male
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Diabetes Res Clin Pract
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
España