In 1998 French researchers Christian Vaisse, Karine Clement, Bernard Guy-Grand & Philippe Froguel published an article A frameshift mutation in human MC4R is associated with the dominant form of obesity in the scientific journal Nature genetics. The article implies exploring the human melanocortin-4 receptor and its relation to obesity. The authors claim that genetic factors and mutations in particular genes may present the reasons for gaining weight, and this topic is not explored thoroughly.
The research contains the description of MC4R action in the human genetic system and referencing references some experiments, which analyze the mutation in MC4R of obese people. According to the first-mentioned experiment, mutations in MC4R were screened in the patients with the “highest maximal lifetime Z score and a history of obesity in infancy” (Vaisse et al., 1998, p. 113). The second exploration regards a 35-year-old woman and her family’s history of obesity. The authors present the figures, which demonstrate that her family has obese subjects in generations (Vaisse et al., 1998). It is illustrated that her mother, sister, niece, and young brother have the same history of obesity, while it is not relevant for her father, aunt, and another other niece. The PCR-RFLP assay, which was conducted by the researchers, did not reveal mutations in the control population. However, the mutation, causing severe obesity phenotype, was found over three generations. All the obese people in the family “had a Z score at least four standard deviations above a normal BMI” (Vaisse et al., 1998, p. 114). It is worth mentioning that the male mail carrier had less susceptibility to obesity.
In summary, the data presented in the article helps to indicate a frameshift mutation in MC4R. It appears to be the reason of for the non-syndromic form of obesity and presents a monogenic dominant gene. The authors managed to prove the direct relation relationship between obesity and mutation in MC4R successfully. This way, the article is educative and contributes to exploring this filedfield, which requires further developments and experiments.
Reference
Vaisse, C., Clement K., Guy-Grand, B. & Froguel P. (1998). A frameshift mutation in human MC4R is associated with the dominant form of obesity. Nature Genetics, 20, 113-114.