Monogenic Obesity
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Monogenic obesity is excess weight caused by a mutation in a single gene, as opposed to
syndromic obesity Syndromic obesity (SO) refers to obesity when it occurs as part of a syndrome, often along with intellectual disability. Often syndromic obesity is mediated by abnormal development of the hypothalamus The hypothalamus (: hypothalami; ) is a ...
not tied to a single gene variation and most obesity, which is caused by multiple genetic and environmental risk factors. Monogenetic obesity mostly affects the
hypothalamus The hypothalamus (: hypothalami; ) is a small part of the vertebrate brain that contains a number of nucleus (neuroanatomy), nuclei with a variety of functions. One of the most important functions is to link the nervous system to the endocrin ...
and leptin–melanocortin system (see hypothalamic obesity). However, it accounts for less than 5 percent of severe obesity cases. Known mutations leading to monogenetic obesity include: *
Leptin Leptin (from Ancient Greek, Greek λεπτός ''leptos'', "thin" or "light" or "small"), also known as obese protein, is a protein hormone predominantly made by adipocytes (cells of adipose tissue). Its primary role is likely to regulate long ...
deficiency *
Leptin receptor Leptin receptor, also known as LEP-R or OB-R, is a type I cytokine receptor, a protein that in humans is encoded by the ''LEPR'' gene. LEP-R functions as a receptor for the fat cell-specific hormone leptin. LEP-R has also been designated as CD2 ...
deficiency * Melanocortin-4 receptor (MC4R) *
Proopiomelanocortin Pro-opiomelanocortin (POMC) is a precursor polypeptide with 241 amino acid residues. POMC is Protein biosynthesis, synthesized in Corticotropic cell, corticotrophs of the anterior pituitary from the 267-amino-acid-long Precursor polypeptide, pol ...
(POMC * Prohormone convertase 1/3 (PC1/3) *
SIM1 Single-minded homolog 1, also known as class E basic helix-loop-helix protein 14 (bHLHe14), is a protein that in humans is encoded by the ''SIM1'' gene. Function The ''SIM1'' and ''SIM2'' genes are homologs of ''Drosophila melanogaster'' single-m ...
* BDNF * NTRK2


References

{{Genetic-disorder-stub Classification of obesity