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.
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References
- 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
- Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta. 2009; 1791: 507-513. Ref.: https://goo.gl/uU4HBk
- Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011; 96: 3313-3325. Ref.: https://goo.gl/s4RLDo
- Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, et al. Nuclear envelope-related lipodystrophies. Semin Cell Dev Biol. 2014; 29: 148-157. Ref.: https://goo.gl/wqAtHS
- Rapini RP, Bolognia JL, Jorizzo JL. Dermatology. Set St Louis. Mosby. 2007; 2: 1541–1542. Ref.: https://goo.gl/FNaLrX
- James WD, Berger TG, Elston D. Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. 2006; Ref.: https://goo.gl/uVyA3c
- 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
- Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011; 96: 3313–3325. Ref.: https://goo.gl/Ux3tn9
































