[Genetic characteristics of hearing disorders in changes in genes responsible for collagen synthesis].
The latest clinicogenetic studies of different hypoacusis forms associated with defects in collagen synthesis are reviewed. To 2002 in human cochlear the researchers got to know gene expression of 10 types of collagens. Basal membrane of the Corti's organ is formed by collagen of type IV, bone cochlear capsule - by collagen of type I, the tectorial membrane contains collagens of type II, V, IX and XI. Brief clinical and genetic characteristics of Alport syndrome, Stickler syndrome, stapes ankylosis syndrome, OSMED syndrome, osteogenesis imperfecta are provided. The results of the study confirm the fact that collagen, being a basic structural component of the connective tissue, has an essential role in development of normal hearing. Accurate diagnosis of the above syndromes is sure to improve quality of treatment.
Markova
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D024042:Collagen Type I / Q000096:biosynthesis* / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism* / Q000601:surgery; D006801:Humans; D009925:Organ of Corti / Q000378:metabolism; D013201:Stapes Surgery
D024042:Collagen Type I