Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
There are well-documented examples in the literature of where determining the genetic aetiology of a disorder has provided insights into important regulatory pathways and protein interactions, and, more recently, has led to improved treatment options for patients. The studies of monogenic forms of b...
| Auteurs principaux: | , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
2008
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| _version_ | 1826301197458341888 |
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| author | Gloyn, A Tribble, N van de Bunt, M Barrett, A Johnson, P |
| author_facet | Gloyn, A Tribble, N van de Bunt, M Barrett, A Johnson, P |
| author_sort | Gloyn, A |
| collection | OXFORD |
| description | There are well-documented examples in the literature of where determining the genetic aetiology of a disorder has provided insights into important regulatory pathways and protein interactions, and, more recently, has led to improved treatment options for patients. The studies of monogenic forms of beta-cell dysfunction are no exception. Naturally occurring mutations in the gene for the beta-cell enzyme glucokinase (GCK) result in both hyper- and hypo-glycaemia. Over 200 mutations have been described, and careful study of the mutational mechanisms for a number of these has provided important insights into glucokinase regulation. Increased understanding of post-translational regulatory mechanisms holds the promise of novel pharmacotherapeutic options for the treatment of T2DM (Type 2 diabetes mellitus). It is well established that common genetic variation in genes involved in monogenic forms of beta-cell dysfunction contributes to susceptibility to T2DM. Recent genome-wide scans for association have identified a number of novel T2DM susceptibility genes which probably influence beta-cell mass and/or function. Their identification allows the investigation of the role of rare mutations in monogenic beta-cell dysfunction. Current results indicate the importance of these genes in pancreatic development and suggest that mutations which result in a severe functional defect could be lethal. |
| first_indexed | 2024-03-07T05:28:44Z |
| format | Journal article |
| id | oxford-uuid:e1778676-8b8c-4c8c-859f-38d30c09471b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:28:44Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:e1778676-8b8c-4c8c-859f-38d30c09471b2022-03-27T09:54:44ZGlucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e1778676-8b8c-4c8c-859f-38d30c09471bEnglishSymplectic Elements at Oxford2008Gloyn, ATribble, Nvan de Bunt, MBarrett, AJohnson, PThere are well-documented examples in the literature of where determining the genetic aetiology of a disorder has provided insights into important regulatory pathways and protein interactions, and, more recently, has led to improved treatment options for patients. The studies of monogenic forms of beta-cell dysfunction are no exception. Naturally occurring mutations in the gene for the beta-cell enzyme glucokinase (GCK) result in both hyper- and hypo-glycaemia. Over 200 mutations have been described, and careful study of the mutational mechanisms for a number of these has provided important insights into glucokinase regulation. Increased understanding of post-translational regulatory mechanisms holds the promise of novel pharmacotherapeutic options for the treatment of T2DM (Type 2 diabetes mellitus). It is well established that common genetic variation in genes involved in monogenic forms of beta-cell dysfunction contributes to susceptibility to T2DM. Recent genome-wide scans for association have identified a number of novel T2DM susceptibility genes which probably influence beta-cell mass and/or function. Their identification allows the investigation of the role of rare mutations in monogenic beta-cell dysfunction. Current results indicate the importance of these genes in pancreatic development and suggest that mutations which result in a severe functional defect could be lethal. |
| spellingShingle | Gloyn, A Tribble, N van de Bunt, M Barrett, A Johnson, P Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title | Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title_full | Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title_fullStr | Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title_full_unstemmed | Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title_short | Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. |
| title_sort | glucokinase gck and other susceptibility genes for beta cell dysfunction the candidate approach |
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