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Titolo:
Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes
Autore:
Barrett, TG;
Indirizzi:
Univ Birmingham, Birmingham B15 2TT, W Midlands, England Univ Birmingham Birmingham W Midlands England B15 2TT W Midlands, England Birmingham Childrens Hosp, Dept Endocrinol, Birmingham B4 6NH, W Midlands,England Birmingham Childrens Hosp Birmingham W Midlands England B4 6NH ds,England
Titolo Testata:
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
fascicolo: 3, volume: 15, anno: 2001,
pagine: 325 - 343
SICI:
1521-690X(200109)15:3<325:MDDAOI>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
RESPONSIVE MEGALOBLASTIC-ANEMIA; BARDET-BIEDL-SYNDROME; TRANSFER RNA(LEU(UUR)) GENE; PRADER-WILLI-SYNDROME; KEARNS-SAYRE SYNDROME; WOLFRAM-SYNDROME; INSULIN-RESISTANCE; OPTIC ATROPHY; ALSTROM-SYNDROME; SENSORINEURAL DEAFNESS;
Keywords:
mitochondria; Wolfram syndrome; DIDMOAD; Alstrom syndrome; Wolcott-Rallison syndrome; leprechaunism; Bardet-Biedl syndrome; Prader-Willi syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
95
Recensione:
Indirizzi per estratti:
Indirizzo: Barrett, TG Univ Birmingham, Birmingham B15 2TT, W Midlands, England Univ Birmingham Birmingham W Midlands England B15 2TT England
Citazione:
T.G. Barrett, "Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes", BEST PRAC R, 15(3), 2001, pp. 325-343

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 asthe 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/02/20 alle ore 14:42:00