Modifier Genes as a Cause of Wilson–Konovalov Disease Clinical Polymorphism

Autor: E. A. Fonova, N.A. Skryabin, I.Zh. Zhalsanova, A.E. Postrigan
Rok vydání: 2021
Předmět:
Zdroj: Russian Journal of Genetics. 57:522-532
ISSN: 1608-3369
1022-7954
DOI: 10.1134/s1022795421050094
Popis: For more than 100 years of existence of Wilson–Konovalov disease as an independent nosological form, the etiology and pathogenesis of this disease have been studied from different points of view—both clinical and genetic. However, to this day, new information is emerging not only about mutations in the ATP7B gene itself but also about modifying factors affecting the clinical picture of the disease. From a genetic point of view, the influence of modifier genes is undeniable, because owing to their action (protective or compensatory), some forms of Wilson–Konovalov disease can be explained and it is possible to further use this knowledge in the framework of personalized patient treatment. In this review, the authors consider the influence of various modifiers (intra- and extra-gene) on the course and manifestation of the clinical forms of Wilson–Konovalov disease. The authors show the possible mechanisms for the occurrence of milder or more severe forms of Wilson–Konovalov disease with the participation of certain genes.
Databáze: OpenAIRE
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