Maturity onset diabetes of the young pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
==Pathophysiology== | |||
The recognised forms of MODY are all due to ineffective insulin production or release by [[pancreas|pancreatic]] [[beta cell|β-cells]]. Several of the defects are [[mutation]]s of [[transcription factor]] [[gene]]s. One form is due to mutations of the [[glucokinase]] gene. For each form of MODY, multiple specific mutations involving different [[amino acid]] substitutions have been discovered. In some cases, there are significant differences in the activity of the mutant gene product that contribute to variations in the clinical features of the diabetes (such as degree of insulin deficiency or age of onset). | |||
Cases of MODY in China appear to be largely unexplained by the genes associated with MODY in Western populations.<ref name="pmid15657605">{{cite journal |author=Xu JY, Dan QH, Chan V, ''et al'' |title=Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients |journal=Eur. J. Hum. Genet. |volume=13 |issue=4 |pages=422–7 |year=2005 |month=April |pmid=15657605 |doi=10.1038/sj.ejhg.5201347}}</ref> | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 00:48, 20 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
The recognised forms of MODY are all due to ineffective insulin production or release by pancreatic β-cells. Several of the defects are mutations of transcription factor genes. One form is due to mutations of the glucokinase gene. For each form of MODY, multiple specific mutations involving different amino acid substitutions have been discovered. In some cases, there are significant differences in the activity of the mutant gene product that contribute to variations in the clinical features of the diabetes (such as degree of insulin deficiency or age of onset).
Cases of MODY in China appear to be largely unexplained by the genes associated with MODY in Western populations.[1]