Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.
Best Pract Res Clin Endocrinol Metab
; 15(3): 325-43, 2001 Sep.
Article
em En
| MEDLINE
| ID: mdl-11554774
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Diabetes Mellitus
/
Mutação
Limite:
Adult
/
Humans
/
Middle aged
/
Newborn
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article