Monogene former for fedme med speciel fokus på melanocortin 4 receptor-mutationer
Engelsk titel: Monogenetic obesity with special focus on the melanocortin 4 receptor gene mutations
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Författare:
bruun JM
;
Pedersen SB
;
Richelsen B
Email: Jens.Bruun@ki.au.dk
Språk: Dan
Antal referenser: 10
Dokumenttyp:
Artikel
UI-nummer: 04101350
Sammanfattning
Several mutations in mouse genes related to appetite regulation have been cloned, and homologous mutations have been revealed to be rare causes of human obesity. In this paper, a mutation (Tyr35stop; 100A> T) in the MC4R gene is described. The proband was severely obese with a BMI of 54 kg/m2 at the age of 9. He was found to be heterozygous, with a mutation in the MC4R gene leading to a non-functional receptor. The application of genetics to the understanding of appetite regulation in humans will hopefully in the near future lead to better treatment of the obese state based on physiological principles.