Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids
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Published:2024-01-23
Issue:2
Volume:14
Page:129
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ISSN:2075-4426
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Container-title:Journal of Personalized Medicine
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language:en
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Short-container-title:JPM
Author:
Krasnova Maria1, Efremova Anna1, Mokrousova Diana1, Bukharova Tatiana1, Kashirskaya Nataliya12ORCID, Kutsev Sergey1, Kondratyeva Elena1, Goldshtein Dmitry1
Affiliation:
1. Research Centre for Medical Genetics, Moscow 115522, Russia 2. Moscow Regional Research and Clinical Institute (“MONIKI”), Schepkina Street, 61/2, 1, Moscow 129110, Russia
Abstract
Complex alleles (CAs) arise when two or more nucleotide variants are present on a single allele. CAs of the CFTR gene complicate the cystic fibrosis diagnosis process, classification of pathogenic variants, and determination of the clinical picture of the disease and increase the need for additional studies to determine their pathogenicity and modulatory effect in response to targeted therapy. For several different populations around the world, characteristic CAs of the CFTR gene have been discovered, although in general the prevalence and pathogenicity of CAs have not been sufficiently studied. This review presents examples of using intestinal organoid models for assessments of the two most common and two rare CFTR CAs in individuals with cystic fibrosis in Russia.
Funder
Federal State Funded Research Institution “Research Centre for Medical Genetics”
Subject
Medicine (miscellaneous)
Reference47 articles.
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