Insulin resistance in human partial lipodystrophy
Insulin resistance in human partial lipodystrophy
复制标题
人类部分脂肪营养不良的胰岛素抵抗
DOI：
--
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发表时间：
2000
影响因子：
5.8
通讯作者：
R. Hegele
中科院分区：
文献类型：
--
作者：
R. Hegele
胰岛素抵抗的常见综合征常见于肥胖个体，其特征在于葡萄糖耐受不良、血脂异常、高血压和冠心病风险增加。胰岛素抵抗的一种罕见遗传形式是Dunnigan型家族性部分脂肪营养不良（FPLD; OMIM #151660），其特征在于四肢、躯干和臀部区域的皮下脂肪损失，并且总是胰岛素抵抗和高胰岛素血症，通常伴有高血压、血脂异常、2型糖尿病和动脉粥样硬化的早期终点。最近发现FPLD是由突变的LMNA（R482 Q; OMIM#150330.0010）引起的，LMNA是编码核纤层蛋白A和C的基因。扩展家系的结果表明，血脂异常先于血糖异常的FPLD受试者与突变LMNA，高胰岛素血症是目前在疾病的早期过程。由于突变型LMNA，患有FPLD的受试者的血浆瘦素也显著降低。因此，核结构蛋白中的罕见突变可与显著异常的定性和定量表型相关，表明核膜结构和功能的缺陷可导致与常见胰岛素抵抗综合征共享许多方面的表型。
The common syndrome of insulin resistance is frequently seen in obese individuals, and is characterized by glucose intolerance, dyslipidemia, high blood pressure, and an increased risk of coronary heart disease. A rare genetic form of insulin resistance is Dunnigan-type familial partial lipodystrophy (FPLD; OMIM #151660), which is characterized by loss of subcutaneous fat from extremities, trunk, and gluteal region, and always by insulin resistance and hyperinsulinemia, often with hypertension, dyslipidemia, type-2 diabetes and early endpoints of atherosclerosis. FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. Plasma leptin is also markedly reduced in subjects with FPLD due to mutant LMNA. Thus, rare mutations in a nuclear structural protein can be associated with markedly abnormal qualitative and quantitative phenotypes, indicating that a defect in the structure and function of the nuclear envelope can result in a phenotype that shares many aspects with the common syndrome of insulin resistance.
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影响因子：
56.9
作者：
BROWN, MS;GOLDSTEIN, JL
通讯作者：
GOLDSTEIN, JL
影响因子：
15.9
作者：
Gavrilova, O;Marcus-Samuels, B;Reitman, ML
通讯作者：
Reitman, ML
DOI：
10.1016/s0002-9149(99)00350-1
发表时间：
1999-07
期刊：
The American journal of cardiology
影响因子：
--
作者：
G I Shulman
通讯作者：
G I Shulman
DOI：
10.1073/pnas.96.5.2327
发表时间：
1999-03-02
影响因子：
11.1
作者：
Unger, RH;Zhou, YT;Orci, L
通讯作者：
Orci, L
影响因子：
9.8
作者：
Speckman, RA;Garg, A;Bowcock, AM
通讯作者：
Bowcock, AM