[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].
The primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ciliopathies. The latter can be of syndromic nature with multi-organ dysfunctions and can also be associated with a morbid obese phenotype, like it is the case in the iconic ciliopathy, the Bardet Biedl syndrome (BBS). This review will discuss the contribution of the unique context offered by the emblematic BBS for understanding the mechanisms leading to obesity via the involvement of the primary cilium together with identification of novel molecular players and signaling pathways it has helped to highlight. In the current context of translational medicine and system biology, this article will also discuss the potential benefits and challenges posed by these techniques via multi-level approaches to better dissect the underlying mechanisms leading to the complex condition of obesity.
Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France - LBGI bioinformatique et génomique intégratives - BFO ICube, CNRS UMR 7357, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.
Kirsley
K
Chennen
Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.
Maria Julia
MJ
Scerbo
Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.
Hélène
H
Dollfus
LBGI bioinformatique et génomique intégratives - BFO ICube, CNRS UMR 7357, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.
Olivier
O
Poch
Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.
Vincent
V
Marion
D000273:Adipose Tissue / Q000473:pathology; D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D018833:Chaperonins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D002923:Cilia / Q000502:physiology*; D002925:Ciliary Motility Disorders / Q000235:genetics / Q000473:pathology*; D004195:Disease Models, Animal; D004703:Endocrine System / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D007031:Hypothalamus / Q000503:physiopathology / Q000648:ultrastructure; D051379:Mice; D018345:Mice, Knockout; D008869:Microtubule-Associated Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D008954:Models, Biological; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D009765:Obesity / Q000235:genetics / Q000503:physiopathology*; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D013577:Syndrome; D015430:Weight Gain
D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D018833:Chaperonins