The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan

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 mut...

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Autores principales:	Shabana, Hasnain,Shahida
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2016
Materias:	Obesity Leptin p. N103K Pakistan
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100023
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spelling	oai:scielo:S0716-976020160001000232016-12-01The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in PakistanShabana,Hasnain,Shahida Obesity Leptin p. N103K Pakistan 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.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.49 20162016-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100023en10.1186/S40659-016-0082-7
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Obesity Leptin p. N103K Pakistan
spellingShingle	Obesity Leptin p. N103K Pakistan Shabana, Hasnain,Shahida The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
description	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.
author	Shabana, Hasnain,Shahida
author_facet	Shabana, Hasnain,Shahida
author_sort	Shabana,
title	The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
title_short	The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
title_full	The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
title_fullStr	The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
title_full_unstemmed	The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan
title_sort	p. n103k mutation of leptin (lep) gene and severe early onset obesity in pakistan
publisher	Sociedad de Biología de Chile
publishDate	2016
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100023
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The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan

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