Serum metabolomics identified specific lipid compounds which may serve as markers of disease progression in patients with Alstrom and Bardet-Biedl syndromes.

ABSTRACT: Objectives: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are among the so-called ciliopathies and are associated with the development of multiple systemic abnormalities, including early childhood obesity and progressive neurodegeneration. Given the progressive deterioration of patients' quality of life, in the absence of defined causal treatment, it seems reasonable to identify the metabolic background of these diseases and search for their progression markers. The aim of this study was to find metabolites characteristic to ALMS and BBS, correlating with clinical course parameters, and related to the diseases progression. Methods: Untargeted metabolomics of serum samples obtained from ALMS and BBS patients (study group; n = 21) and obese/healthy participants (contr

SUBMITTER: Jeziorny K 

PROVIDER: S-EPMC10657895 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature