Research Article

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

Shahin Asadi* and Mahsa Jamali

Published: 02/22/2019 | Volume 2 - Issue 1 | Pages: 001-006

Abstract

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

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