[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].

Med Sci (Paris)

Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.

Published: November 2014

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.

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143011018DOI Listing

Publication Analysis

Top Keywords

primary cilium
8
will discuss
8
mechanisms leading
8
[bardet-biedl syndrome
4
syndrome cilia
4
cilia obesity
4
obesity genes
4
genes integrative
4
integrative approaches]
4
approaches] primary
4

Similar Publications

Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease.

Neurobiol Dis

December 2024

Department of Physiology & Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address:

Huntington's disease (HD) is caused by the expansion of a CAG repeat, encoding a string of glutamines (polyQ) in the first exon of the huntingtin gene (HTTex1). This mutant huntingtin protein (mHTT) with extended polyQ forms aggregates in cortical and striatal neurons, causing cell damage and death. The retina is part of the central nervous system (CNS), and visual deficits and structural abnormalities in the retina of HD patients have been observed.

View Article and Find Full Text PDF

Primary Cilia Regulate the Homeostasis and Regeneration of the Stem Cell Niche in the Tooth.

J Cell Physiol

January 2025

Tianjin Key Laboratory of Oral Soft and Hard Tissues Restoration and Regeneration, Tianjin Medical University School of Stomatology, Tianjin Medical University, Tianjin, China.

Primary cilia, functioning as crucial hubs for signal sensing and transduction, are integral to the development and maintenance of homeostasis across various organs. However, their roles in tooth homeostasis and repair remain inadequately understood. In this study, we reveal an indispensable role for primary cilia in regulating the homeostasis and regeneration of teeth, primarily through the regulation of cell proliferation.

View Article and Find Full Text PDF

The impact of ciliary length on the mechanical response of osteocytes to fluid shear stress.

Nitric Oxide

December 2024

Key Laboratory for Biomechanics and Mechanobiology, Ministry of Education, Beijing Advanced Innovation Center for Biomedical Engineering, School of Biological Science and Medical Engineering, Beihang University, Beijing, 100191, China. Electronic address:

Background: Osteocytes are crucial for detecting mechanical stimuli and translating them into biochemical responses within the bone. The primary cilium, a cellular 'antenna,' plays a vital role in this process. However, there is a lack of direct correlation between cilium length changes and osteocyte mechanosensitivity changes.

View Article and Find Full Text PDF

During gestation, the choroid plexus (ChP) produces protein-rich cerebrospinal fluid and matures prior to brain development. It is assumed that ChP dysfunction has a profound effect on developmental neuropsychiatric disorders, such as autism spectrum disorder (ASD). However, the mechanisms linking immature ChP to the onset of ASD remain unclear.

View Article and Find Full Text PDF

Rapid thrombolysis is very important to reduce complications caused by vascular blockage. A promising approach for improving thrombolysis efficiency is utilizing the permanent magnetically actuated locomotion of nanorobots. However, the thrombolytic drug transportation efficiency is challenged by in-plane rotating locomotion and the insufficient drug penetration limits further improvement of thrombolysis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!