Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy

Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numer...

Full description

Saved in:
Bibliographic Details
Published in:Bone Reports 2022-12, Vol.17, p.101600-101600, Article 101600
Main Authors: Jeziorny, Krzysztof, Zmyslowska-Polakowska, Ewa, Wyka, Krystyna, Pyziak-Skupień, Aleksandra, Borowiec, Maciej, Szadkowska, Agnieszka, Zmysłowska, Agnieszka
Format: Article
Language:English
Subjects:
ALMS
Alveolar atrophy
BBS
Bone turnover markers
Ciliopathy
Full Length
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes. In 18 patients (11 with ALMS and 7 with BBS aged 5–29) and in 42 age-matched (p 
ISSN:2352-1872
2352-1872
DOI:10.1016/j.bonr.2022.101600