Abstract

Review Article

The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome

Shahin Asadi* and Mahsa Jamali

Published: 22 February, 2019 | Volume 2 - Issue 1 | Pages: 001-006

Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22.

Read Full Article HTML DOI: 10.29328/journal.jgmgt.1001004 Cite this Article Read Full Article PDF

Keywords:

Köbberling-dunnigan syndrome; LMNA; PPARG; PLIN1; AKT2; CIDEC genes; Metabolic disorder

References

  1. Bidault G, Vatier C, Capeau J, Vigouroux C, Béréziat V. LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations. Biochem Soc Trans. 2011; 39: 1752-1757. Ref.: https://goo.gl/r1gEV3
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  7. Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, et al. Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. Diabetes Care. 26: 1819–1824. Ref.: https://goo.gl/cnjmZZ
  8. Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011; 96: 3313–3325. Ref.: https://goo.gl/Ux3tn9

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