NDLI: Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity

Content Provider	Springer Nature Link
Author	Wasim, Muhammad Awan, Fazli Rabbi Najam, Syeda Sadia Khan, Abdul Rehman Khan, Haq Nawaz
Copyright Year	2016
Abstract	Leptin protein consists of 167 amino acids, which is mainly secreted from the white adipose tissue. This protein acts on the hypothalamic regions of the brain which control eating behavior, thus playing a significant role in maintaining body’s metabolism. Leptin receptors belong to glycoprotein 130 (gp130) family of cytokine receptors and exist in six isoforms (LEPR a–f), and all the isoforms are encoded by LEPR gene; out of these isoforms, the LEPR-b receptor is the ‘longest form,’ and in most of the cases, mutations in this isoform cause severe obesity. Also, mutations in the leptin gene (LEP) or its receptors gene can lead to obesity. Some biochemical pathways affect the bioactivity of leptin and/or its receptors. To date, eleven pathogenic mutations have been reported in the LEP which are p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, p.W121X c.104_106delTCA, c.135del3bp, c.398delG, c.481_482delCT, and c.163C>T. Different mutations in the LEPR have also been reported as c.2396-1 G>T, c.1675 G>A, p.P316T, etc. In some studies, where leptin was deficient, leptin replacement therapy has shown positive impact by preventing weight gain and obesity.
Starting Page	565
Ending Page	572
Page Count	8
File Format	PDF
ISSN	00062928
Journal	Biochemical Genetics
Volume Number	54
Issue Number	5
e-ISSN	15734927
Language	English
Publisher	Springer US
Publisher Date	2016-06-16
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Congenital leptin deficiency LEP LEPR Homozygous mutation Ob Leptin replacement therapy (LRT) Obesity Human Genetics Biochemistry Zoology Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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