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- Title
Inner ear malformations caused by mutations in Slc26a4 gene and it's regulative elements presented in a zebrafish model.
- Authors
Żyżyńska-Galeńska, K.; Oziębło, D.; Oldak, M.; Korzh, V.
- Abstract
Congenital hearing loss can be caused by genetic abnormalities leading to inner ear malformations (IEM). SLC26A4 (pendrin) is an anion exchanger expressed in the inner ear, thyroid and β-intercalated cells in the kidney. Mutations in SLC26A4 cause a common form of IEMS: enlarged vestibular aqueduct (EVA), often accompanied by incomplete partition type 2 (EVA/IP2). However, only 25% of patients have confirmed mutations in SLC26A4. It has been reported that a group of polymorphisms upstream of the SLC26A4 gene, the CEVA haplotype, is frequently found in patients with monoallelic SLC26A4 mutations. Since the publication of the zebrafish genome in 2001, the zebrafish has become an increasingly popular animal model for studying human diseases. The transparency of the larvae, the large number of offspring and the accessibility of various methods of genetic, chemical and physical manipulation make it a very useful model for studying inner ear development. During early development, the inner ear undergoes dynamic changes from an otic placode and otic vesicle to a labyrinth of semicircular canals. Since data on the expression of genes associated with hearing are incomplete, we present here a detailed account of expression during early development. Secondly, we plan to create a zebrafish model for human SLC26A4 gene expression by introducing human upstream regulatory elements into the zebrafish genome.
- Subjects
POLAND; FISHES; CONFERENCES &; conventions; GENE expression; INNER ear; HEARING disorders; GENETIC mutation
- Publication
Journal of Hearing Science, 2024, Vol 14, Issue 3, p131
- ISSN
2083-389X
- Publication type
Article