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- August 28, 2008 |
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"A PPAR gamma Mutation and the Lipodystrophic Phenotype - A window into the Metabolic Syndrome ?"Dr. Thomas Ransom (biography)
English - 2004-05-14 - 22 minutes
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Summary :
The metabolic syndrome is increasingly being recognized as a threat to the health of Canadian society. Dr. Thomas Ransom discusses in this talk the extreme forms of the metabolic syndrome – the lipodystrophy syndromes.
Features common to all lipodystrophy syndromes are presented and the differences between the syndromes are examined. Dr. Ransom makes the case for studying monogenetic forms of lipodystrophy in order to better understand the syndromes in this talk. To illustrate his point, he presents the case of a woman who bears a novel PPAR-gamma mutation.
The molecular pathogenesis of lipodystrophy syndromes is also discussed.
Copyright © 2004 E-MedHosting.com Inc
Learning objectives :
After viewing this presentation, participants will be able to discuss:
• The NCEP and WHO definitions of the metabolic syndrome.
• The value of studying monogenetic forms of lipodystrophy.
• The different lipodystrophy syndromes.
• The molecular basis for the development of lipodystrophy syndromes.
Bibliographic references :
Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 2002 Dec;51(12):3586-90.
Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004 Mar 18;350(12):1220-34.
Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VK, O'Rahilly S. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. Diabetes. 2003 Apr;52(4):910-7.
Agarwal AK, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab. 2002 Jan;87(1):408-11.
Gurnell M. PPARgamma and metabolism: insights from the study of human genetic variants. Clin Endocrinol (Oxf). 2003 Sep;59(3):267-77.
Other References of Interest
Hegele RA. Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. Trends Endocrinol Metab. 2003 Oct;14(8):371-7.
Hegele RA. Phenomics, lipodystrophy, and the metabolic syndrome. Trends Cardiovasc Med. 2004 May;14(4):133-7.
Hegele RA, Leff T. Unbuckling lipodystrophy from insulin resistance and hypertension. J Clin Invest. 2004 Jul;114(2):163-5.
Agarwal AK, Garg A. Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab. 2003 Jul;14(5):214-21.
Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7.
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