Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
The beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surpr...
| Автори: | , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2006
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| _version_ | 1826296250113196032 |
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| author | Gloyn, A Siddiqui, J Ellard, S |
| author_facet | Gloyn, A Siddiqui, J Ellard, S |
| author_sort | Gloyn, A |
| collection | OXFORD |
| description | The beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surprising that mutations in the genes encoding for the two essential subunits of the channel can result in both hypo- and hyperglycemia. The channel consists of four subunits of the inwardly rectifying potassium channel Kir6.2 and four subunits of the sulfonylurea receptor 1. It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described. This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes. |
| first_indexed | 2024-03-07T04:13:26Z |
| format | Journal article |
| id | oxford-uuid:c897baf7-b110-487a-9afa-0f63e5f8b886 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:13:26Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:c897baf7-b110-487a-9afa-0f63e5f8b8862022-03-27T06:53:17ZMutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c897baf7-b110-487a-9afa-0f63e5f8b886EnglishSymplectic Elements at Oxford2006Gloyn, ASiddiqui, JEllard, SThe beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surprising that mutations in the genes encoding for the two essential subunits of the channel can result in both hypo- and hyperglycemia. The channel consists of four subunits of the inwardly rectifying potassium channel Kir6.2 and four subunits of the sulfonylurea receptor 1. It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described. This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes. |
| spellingShingle | Gloyn, A Siddiqui, J Ellard, S Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title | Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title_full | Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title_fullStr | Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title_full_unstemmed | Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title_short | Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |
| title_sort | mutations in the genes encoding the pancreatic beta cell katp channel subunits kir6 2 kcnj11 and sur1 abcc8 in diabetes mellitus and hyperinsulinism |
| work_keys_str_mv | AT gloyna mutationsinthegenesencodingthepancreaticbetacellkatpchannelsubunitskir62kcnj11andsur1abcc8indiabetesmellitusandhyperinsulinism AT siddiquij mutationsinthegenesencodingthepancreaticbetacellkatpchannelsubunitskir62kcnj11andsur1abcc8indiabetesmellitusandhyperinsulinism AT ellards mutationsinthegenesencodingthepancreaticbetacellkatpchannelsubunitskir62kcnj11andsur1abcc8indiabetesmellitusandhyperinsulinism |