Literature DB >> 12074822

The molecular basis of genetic lipodystrophies.

Shelly Bhayana1, Robert A Hegele.   

Abstract

OBJECTIVES: Hyperinsulinemia is often associated with a cluster of metabolic abnormalities, which usually presents before the onset of frank diabetes. Lipodystrophy syndromes are frequently associated with hyperinsulinemia and may act as models for insulin resistance. Lipodystrophy is characterized in broad terms by loss of subcutaneous adipose tissue. Despite heterogeneous causes, which include both genetic and acquired forms, lipodystrophy syndromes have similar metabolic attributes, including insulin resistance, hyperlipidemia and diabetes.
RESULTS: Recently, the molecular basis of two genetic forms of lipodystrophy, namely Dunnigan-type familial partial lipodystrophy (FPLD; MIM 151660) and Berardinelli-Seip complete lipodystrophy (BSCL; MIM 269700) have been reported. There is evidence for genetic heterogeneity for both types of lipodystrophy. In addition, murine models of lipodystrophy have provided key insights into alterations of metabolic pathways in lipodystrophy.
CONCLUSIONS: Delineation of the human molecular genetic basis of two distinct forms of inherited lipodystrophy may have relevance for the common insulin resistance syndrome and for acquired lipodystrophy syndromes.

Entities:  

Mesh:

Year:  2002        PMID: 12074822     DOI: 10.1016/s0009-9120(02)00297-7

Source DB:  PubMed          Journal:  Clin Biochem        ISSN: 0009-9120            Impact factor:   3.281


  6 in total

Review 1.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

2.  Triacylglycerol metabolism in adipose tissue.

Authors:  Maryam Ahmadian; Robin E Duncan; Kathy Jaworski; Eszter Sarkadi-Nagy; Hei Sook Sul
Journal:  Future Lipidol       Date:  2007-04

3.  Berardinelli Seip Syndrome.

Authors:  Col An Prasad
Journal:  Med J Armed Forces India       Date:  2011-07-21

4.  Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging.

Authors:  Salam A Al-Attar; Rebecca L Pollex; John F Robinson; Brooke A Miskie; Rhonda Walcarius; Cynthia Harper Little; Brian K Rutt; Robert A Hegele
Journal:  BMC Med Imaging       Date:  2007-03-12       Impact factor: 1.930

5.  Berardinelli-Seip syndrome type 1 in an Egyptian child.

Authors:  Kotb Abbass Metwalley; Hekma Saad Farghaly
Journal:  Indian J Hum Genet       Date:  2014-01

6.  Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

Authors:  Henian Cao; Lindsay Alston; Jennifer Ruschman; Robert A Hegele
Journal:  Lipids Health Dis       Date:  2008-01-31       Impact factor: 3.876

  6 in total

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