Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.
Inherited diabetes syndromes are individually rare but collectively make up a significant proportion of patients attending diabetes clinics, some of whom have multiple handicaps. This chapter focuses on syndromes in which major advances have been made in our understanding of the underlying molecular genetics. These conditions demonstrate novel genetic mechanisms such as maternal inheritance and genetic imprinting. They are also fascinating as they aid our understanding of insulin metabolism, both normal and abnormal. As the causative genes are identified, future issues will be the availability of genetic testing, their contribution to the genetic heterogeneity of the more common types of diabetes, and functional studies of the relevant proteins. It is probable that other subtypes of diabetes will be identified as the relevant metabolic pathways are characterized. This is an exciting time to be a diabetes physician as diabetology returns to being a diagnostic rather than a mainly management-based speciality.
Barrett
T G
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Department of Endocrinology, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK.
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007333:Insulin Resistance / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D011218:Prader-Willi Syndrome / Q000235:genetics; D013577:Syndrome; D014929:Wolfram Syndrome / Q000235:genetics
D004272:DNA, Mitochondrial