Publications by authors named "Elodie Haser"
Article Synopsis
- Cilia are essential organelles linked to various genetic disorders called ciliopathies, which often result in retinal degeneration (RD).
- This study compares retinal degeneration mechanisms in three rodent models representative of different ciliopathies: Bardet-Biedl Syndrome, Alström Syndrome, and CEP290-mediated Leber Congenital Amaurosis, using techniques like electroretinography and electron microscopy.
- Findings show that BBS and CEP290 models share a similar rapid degeneration process with specific cellular dysfunctions, while the ALMS model exhibits a slower degeneration without certain defects, indicating that each ciliopathy has unique disease progression pathways despite all leading to vision loss.
Background: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, obesity and renal dysfunction. To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide. It codes for the BBS10 protein which forms part of a chaperone complex localized at the basal body of the primary cilium.
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