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2014 ; 3
(2
): 79-88
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Ciliary disturbances in syndromal and non-syndromal obesity
#MMPMID27625866
de Vries TI
; van Haelst MM
J Pediatr Genet
2014[Jun]; 3
(2
): 79-88
PMID27625866
show ga
Obesity is an increasing global health problem. Although it is mainly thought to
be due to the changing obesogenic environment, the genetic contribution has been
estimated between 40-70%. A number of genes have been identified that cause
obesity in animals as well as in humans. Rare highly penetrant monogenic forms of
obesity can cause both syndromal and non-syndromal forms of obesity. Bardet-Biedl
syndrome and Alström syndrome are well known monogenic obesity syndromes caused
by primary cilia defects. The pathogenesis of the obesity phenotype in these
disorders is however not fully understood. Disturbance of the appetite regulation
system, abnormalities in body composition and decreased energy expenditure have
been suggested to cause obesity in these ciliopathies. There are currently 19
known genes associated with Bardet-Biedl syndrome and one Alström syndrome gene.
Although ciliopathy genes have been described primarily in these syndromal
obesity disorders, non-syndromal obesity may also result from disturbed cilia
function. There are multiple genes associated with both obesity and ciliary
function. Here we provide an overview of the current knowledge of the clinical,
pathophysiological and genetic aspects of obesity in patients with ciliary
defects.
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