期刊
JOURNAL OF ENDOCRINOLOGY
卷 207, 期 3, 页码 245-255出版社
BIOSCIENTIFICA LTD
DOI: 10.1677/JOE-10-0272
关键词
-
资金
- Wellcome Trust [078986/Z/06/Z]
- GlaxoSmithKline
- Sackler Fund for Medical Science
- Medical Research Council
- UK National Institute for Health Research Cambridge Biomedical Research Centre
- UK Medical Research Council Centre for Obesity and Related Metabolic Disease
- Medical Research Council [G0701532, G0800203, G0502115] Funding Source: researchfish
- MRC [G0701532, G0800203, G0502115] Funding Source: UKRI
- Wellcome Trust [078986/Z/06/Z] Funding Source: Wellcome Trust
Obesity, insulin resistance and their attendant complications are among the leading causes of morbidity and premature mortality today, yet we are only in the early stages of understanding the molecular pathogenesis of these aberrant phenotypes. A powerful approach has been the study of rare patients with monogenic syndromes that manifest as extreme phenotypes. For example, there are striking similarities between the biochemical and clinical profiles of individuals with excess fat (obesity) and those with an abnormal paucity of fat (lipodystrophy), including severe insulin resistance, dyslipidaemia, hepatic steatosis and features of hyperandrogenism. Rare lipodystrophy patients therefore provide a tractable genetically defined model for the study of a prevalent human disease phenotype. Indeed, as we review herein, detailed study of these syndromes is beginning to yield valuable insights into the molecular genetics underlying different forms of lipodystrophy, the essential components of normal adipose tissue development and the mechanisms by which disturbances in adipose tissue function can lead to almost all the features of the metabolic syndrome. Journal of Endocrinology (2010) 207, 245-255
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据