脂肪营养不良的遗传学。
Genetics of Lipodystrophy.
机构信息
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10-CRC/1-3330, MSC 1103, 10 Center Drive, Bethesda, MD 20892, USA.
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10-CRC, Room 6-5942, 10 Center Drive, Bethesda, MD 20892, USA.
出版信息
Endocrinol Metab Clin North Am. 2017 Jun;46(2):539-554. doi: 10.1016/j.ecl.2017.01.012. Epub 2017 Feb 22.
Abstract
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis. In addition, genetic testing can identify patients whose phenotypes are not clearly apparent, but who may still be affected by severe metabolic complications.
摘要
脂肪代谢障碍症的特征是脂肪组织选择性丧失，伴有代谢并发症，包括胰岛素抵抗、高三酰甘油血症和非酒精性肝病。这些并发症可能危及生命，影响生活质量，并导致医疗保健费用增加。遗传发现特别有助于理解这些疾病的病理生理学，并表明突变影响涉及脂肪细胞分化和存活、脂滴形成和脂质合成的途径。此外，基因检测可以识别表型不明显但仍可能受到严重代谢并发症影响的患者。
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Congenital generalized lipodystrophies--new insights into metabolic dysfunction.先天性全身脂肪营养不良——对代谢功能障碍的新见解
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Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.全外显子组测序鉴定出与一种新型新生儿期起病的脂肪营养不良综合征相关的新生杂合性CAV1突变。
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