title: The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan. shabana.mmg@pu.edu.pk.
authors.lastname: Shabana
authors.affiliation: Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan.|The Women University Multan, Multan, Pakistan.
authors.forename: Shahida
authors.initials: S
authors.lastname: Hasnain
mesh_terms: D000328:Adult; D017668:Age of Onset; D000886:Anthropometry; D016022:Case-Control Studies; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005838:Genotype; D006801:Humans; D020738:Leptin / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009765:Obesity / Q000097:blood / Q000235:genetics*; D010154:Pakistan; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012720:Severity of Illness Index
chemical_list: D020738:Leptin
keywords: Leptin; Obesity; Pakistan; p. N103K