Document Detail

The role of ATP sensitive channels in insulin secretion and the implications in persistent hyperinsulinemic hypoglycaemia of infancy (PHHI).
MedLine Citation:
PMID:  17727257     Owner:  NLM     Status:  MEDLINE    
Persistent Hyperinsulinemic Hypoglycaemia of Infancy (PHHI) is a metabolic syndrome of unregulated insulin secretion. It is a heterogenous disease with causes linked to mutations of the ATP sensitive potassium channels of the beta cell, as well as to metabolism in the beta cell. 5 candidate genes--ABCC8, KCNJ11, GCK, GLUD1 and SCHAD have been implicated in the disease so far, however the aetiology of the disease remains unknown in up to 50% of all patients. We genotyped 43 subjects with PHHI (20 surgically treated and 23 medically treated) for disease associated mutations in the candidate genes. Mutations on ABCC8 were identified in 16 of the 20 (80%) of the surgically treated patients. One putative mutation was identified in the medically treated cohort. The polymorphism E23K on KCNJ11 that is associated with NIDDM was differentially distributed in the 2 cohorts. We discuss the mutations identified, emphasise the importance of the K-ATP channel in physiological processes and discuss the possibility that the disease is caused by mutations in other genes associated with insulin release, glucose metabolism in the beta cell or beta cell apoptosis and survival. We propose that these processes must be explored in order to further our understanding of PHHI.
J H Shah; D J Maguire; D Brown; A Cotterill
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in experimental medicine and biology     Volume:  599     ISSN:  0065-2598     ISO Abbreviation:  Adv. Exp. Med. Biol.     Publication Date:  2007  
Date Detail:
Created Date:  2007-08-30     Completed Date:  2007-12-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0121103     Medline TA:  Adv Exp Med Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  133-8     Citation Subset:  IM    
School of Biomolecular and Biomedical Sciences, Griffith University, Nathan, Australia.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics,  metabolism
Cohort Studies
Diabetes Mellitus, Type 2 / genetics
Insulin / metabolism*
KATP Channels / genetics,  metabolism*
Molecular Sequence Data
Persistent Hyperinsulinemia Hypoglycemia of Infancy / genetics,  metabolism*,  physiopathology
Polymorphism, Genetic
Potassium Channels / genetics,  metabolism
Potassium Channels, Inwardly Rectifying / genetics,  metabolism
Receptors, Drug / genetics,  metabolism
Reg. No./Substance:
0/ATP-Binding Cassette Transporters; 0/KATP Channels; 0/Potassium Channels; 0/Potassium Channels, Inwardly Rectifying; 0/Receptors, Drug; 0/sulfonylurea receptor; 11061-68-0/Insulin

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