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A Novel Mutation In Exon 4 Of Leptin Receptor (LEP-R) Is Associated With Obesity And Type 2 Diabetes | 14819
Journal of Obesity & Weight Loss Therapy
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LEP-R functions as a receptor for the fat cell-specific hormone, leptin which is an adipokine, stimulates glucose uptake and fatty
acid oxidation in skeletal muscle, liver and pancreatic beta cells. Sequence variations in the leptin gene and leptin receptor
gene induce a mild dysfunction in the leptin mediated signaling pathway and impair the peripheral effects of leptin. A cohort of
unrelated, obese subjects (
=208) and non obese controls (
=166) were recruited from a semi urban population of Tamilnadu,
South India. 65 obese subjects of the study cohort developed type 2 diabetes during the study period (years 2007-2010). The mean
BMI, waist circumference, TC and TGL was 29.44 kg/m
, 94.8, 200 mg/dl and 205 mg/dl respectively. Gender wise, the mean BMI
in male subjects (
=33) was 28.07 kg/m2 which is comparably lower than in female (
=32, mean BMI=30.86 kg/m2). The mean
TC levels (209.06 mg/dl) and TGL levels (207.84 mg/dl) were higher in females than in males. Sequence analysis of exon 4 in
leptin receptor (LEP-R) revealed a novel mutation -Leu48His (CTT to CAT) in heterozygous state (NCBI accession: KCO13711.1).
Abdominal obesity and hypertriglyceridemia was also recorded. This patient reported chronic rheumatoid arthritis in the right
knee. No familial history of obesity or diabetes was evidenced. The mutation was absent in the sequences of non obese controls.
The clinical implication of this mutation needs to be investigated in detail.
Shajith Anoop has a master's degree in Applied Microbiology and has completed Ph.D. in Environmental Sciences from Bharathiar University,
Coimbatore, India. He has presented research papers in obesity at national and international conferences. His areas of research interest include
clinical trials and gene-nutrient interaction in obesity. He is keen in collaborative research in obesity and type two diabetes.
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