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
  2. Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta. 2009; 1791: 507-513. Ref.: https://goo.gl/uU4HBk
  3. Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011; 96: 3313-3325. Ref.: https://goo.gl/s4RLDo
  4. 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
  5. Rapini RP, Bolognia JL, Jorizzo JL. Dermatology. Set St Louis. Mosby. 2007; 2: 1541–1542. Ref.: https://goo.gl/FNaLrX
  6. James WD, Berger TG, Elston D. Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. 2006; Ref.: https://goo.gl/uVyA3c
  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

Figures:

Figure 1

Figure 1

Figure 1

Figure 2

Figure 1

Figure 3

Figure 1

Figure 4

Figure 1

Figure 5

Figure 1

Figure 6

Figure 1

Figure 7

Figure 1

Figure 8

Figure 1

Figure 9

Figure 1

Figure 10

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More

Help ?