RGD Reference Report - High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes. - Rat Genome Database

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High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes.

Authors: Sobngwi, E  Gautier, JF  Kevorkian, JP  Villette, JM  Riveline, JP  Zhang, S  Vexiau, P  Leal, SM  Vaisse, C  Mauvais-Jarvis, F 
Citation: Sobngwi E, etal., J Clin Endocrinol Metab. 2005 Aug;90(8):4446-51. Epub 2005 May 24.
RGD ID: 2307348
Pubmed: PMID:15914531   (View Abstract at PubMed)
PMCID: PMC6143174   (View Article at PubMed Central)
DOI: DOI:10.1210/jc.2004-2545   (Journal Full-text)

CONTEXT: Ketosis-prone diabetes (KPD) is mostly observed in males of West African descent and is characterized by phasic or permanent insulin dependence without apparent autoimmune process. OBJECTIVE: KPD subjects display a propensity to hyperglycemia-induced acute insulin deficiency, suggesting that they exhibit a propensity to oxidative stress in beta-cells. The enzyme glucose-6-phosphate dehydrogenase (G6PD) is a defense mechanism against oxidative stress, and G6PD deficiency, an X-linked genetic disorder with male predominance, is frequent in West Africans. We hypothesized that mutations in the G6PD gene could predispose to KPD. DESIGN: We studied G6PD erythrocyte enzyme activity and the insulin secretory reserve (glucagon-stimulated C peptide) in a cohort of hospitalized West Africans with KPD (n = 59) or type 2 diabetes (T2DM; n = 59) and in normoglycemic controls (n = 55). We also studied the G6PD gene in an extended population of KPD patients (n = 100), T2DM patients (n = 59), and controls (n = 85). RESULTS: The prevalence of G6PD deficiency was higher in KPD than in T2DM and controls (42.3%; 16.9%; 16.4%; P = 0.01). In KPD, but not in T2DM, insulin deficiency was proportional to the decreased G6PD activity (r = 0.33; P = 0.04). We found no increase in the prevalence of G6PD gene mutations in KPD compared with T2DM and controls. Rather, we found a 20.3% prevalence of G6PD deficiency in KPD without gene mutation. CONCLUSIONS: This study suggests that 1) G6PD deficiency alone is not causative of KPD; and 2) alterations in genes controlling both insulin secretion and G6PD-mediated antioxidant defenses may contribute to the predisposition to KPD in West Africans.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus  IEP 2307348protein:decreased expression:erythrocyteRGD 
type 1 diabetes mellitus  ISOG6PD (Homo sapiens)2307348; 2307348protein:decreased expression:erythrocyteRGD 

Objects Annotated

Genes (Rattus norvegicus)
G6pd  (glucose-6-phosphate dehydrogenase)

Genes (Mus musculus)
G6pdx  (glucose-6-phosphate dehydrogenase X-linked)

Genes (Homo sapiens)
G6PD  (glucose-6-phosphate dehydrogenase)


Additional Information