The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
Biol. Res
;
49: 1-5, 2016. ilus, graf, tab
Article
in English
| LILACS
| ID: biblio-950850
ABSTRACT
BACKGROUND:
Obesity is a complex disorder and has been increasing globally at alarming rates including Pakistan. However, there is scarce research on understanding obesity genetics in Pakistan. Leptin is a hormone secreted by adipocytes in response to satiety and correlates with body weight. Any mutations in the LEP gene have an adverse effect on energy regulation pathway and lead to severe, early onset obesity. To date, only eight mutations have been described in the LEP gene of which p. N103K is one.METHODS:
We aimed to analyze the prevalence of this mutation in Pakistani subjects. A total of 475 subjects were genotyped by PCR-RFLP analysis and their serum profiling was done.RESULTS:
Results showed that this mutation was present only in one male child with early onset obesity (10 year). He had very low serum leptin levels suggestive of functional impact of the mutation. The prevalence of such mutations is, however, low due to the drastic effects on the energy regulation.CONCLUSION:
In conclusion, LEP gene mutations contribute significantly to the monogenic forms of obesity and are important due to the availability of treatment options. Such mutations may exert their effect by directly affecting energy regulation pathway and are more prominent in the early stages of life only.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Leptin
/
Mutation
/
Obesity
Type of study:
Observational study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Biol. Res
Journal subject:
Biology
Year:
2016
Type:
Article
Affiliation country:
Pakistan
Institution/Affiliation country:
University of the Punjab/PK
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