{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Connelly PJ"],"funding":["Wellcome Trust"],"pagination":["371-5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4832393"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(3)"],"pubmed_abstract":["<h4>Aim</h4>To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes.<h4>Methods</h4>A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n = 10) and in a control cohort (n = 10). Serial glucose and insulin measurements were taken to permit cohort comparisons of glucose-insulin homeostasis and indices of insulin secretion and sensitivity.<h4>Results</h4>During the oral glucose tolerance test, the 2-h glucose (6.75 vs 4.93 mmol/l; P = 0.029), insulin concentrations (285.6 vs 148.5 pmol/l; P = 0.043), incremental area under the curve for glucose (314 vs 161 mmol/l/min; P = 0.036) and incremental area under the curve for insulin (37,720 vs 18,080 pmol/l/min; P = 0.03) were hig"],"journal":["Diabetic medicine : a journal of the British Diabetic Association"],"pubmed_title":["Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance."],"pmcid":["PMC4832393"],"funding_grant_id":["102820/Z/13/Z","102820"],"pubmed_authors":["Smith N","Shneerson JM","Pearson ER","Chadwick R","Exley AR","Connelly PJ"],"additional_accession":[]},"is_claimable":false,"name":"Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance.","description":"<h4>Aim</h4>To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes.<h4>Methods</h4>A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n = 10) and in a control cohort (n = 10). Serial glucose and insulin measurements were taken to permit cohort comparisons of glucose-insulin homeostasis and indices of insulin secretion and sensitivity.<h4>Results</h4>During the oral glucose tolerance test, the 2-h glucose (6.75 vs 4.93 mmol/l; P = 0.029), insulin concentrations (285.6 vs 148.5 pmol/l; P = 0.043), incremental area under the curve for glucose (314 vs 161 mmol/l/min; P = 0.036) and incremental area under the curve for insulin (37,720 vs 18,080 pmol/l/min; P = 0.03) were hig","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Mar","modification":"2025-05-29T21:30:57.967Z","creation":"2025-05-29T21:30:57.967Z"},"accession":"S-EPMC4832393","cross_references":{"pubmed":["26606753"],"doi":["10.1111/dme.13037"]}}