Williams Syndrome As a Model for Elucidation of the Pathway Genes - the Brain - Cognitive Functions: Genetics and Epigenetics

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Abstract

Genomic diseases or syndromes with multiple manifestations arise spontaneously and unpredictably as a result of contiguous deletions and duplications generated by unequal recombination in chromosomal regions with a specific architecture. The Williams syndrome is believed to be one of the most attractive models for linking genes, the brain, behavior and cognitive functions. It is a neurogenetic disorder resulting from a 1.5 Mb deletion at 7q11.23 which covers more than 20 genes; the hemizigosity of these genes leads to multiple manifestations, with the behavioral ones comprising three distinct domains: 1) visuo-spatial orientation; 2) verbal and linguistic defect; and 3) hypersocialisation. The shortest observed deletion leads to hemizigosity in only two genes: eln and limk1. Therefore, the first gene is supposed to be responsible for cardiovascular pathology; and the second one, for cognitive pathology. Since cognitive pathology diminishes with a patient’s age, the original idea of the crucial role of genes straightforwardly determining the brain’s morphology and behavior was substituted by ideas of the brain’s plasticity and the necessity of finding epigenetic factors that affect brain development and the functions manifested as behavioral changes. Recently, non-coding microRNAs (miRs) began to be considered as the main players in these epigenetic events. This review tackles the following problems: is it possible to develop relatively simple model systems to analyze the contribution of both a single gene and the consequences of its epigenetic regulation in the formation of the Williams syndrome’s cognitive phenotype? Is it possible to use Drosophila as a simple model system?

About the authors

Е. А. Nikitina

Pavlov Institute of Physiology, Russian Academy of Sciences; Herzen State Pedagogical University

Author for correspondence.
Email: 21074@mail.ru
Russian Federation

A. V. Medvedeva

Pavlov Institute of Physiology, Russian Academy of Sciences; Saint Petersburg State University

Email: 21074@mail.ru
Russian Federation

G. А. Zakharov

Pavlov Institute of Physiology, Russian Academy of Sciences; Saint Petersburg State University

Email: 21074@mail.ru
Russian Federation

Е. V. Savvateeva-Popova

Pavlov Institute of Physiology, Russian Academy of Sciences; Saint Petersburg State University

Email: 21074@mail.ru
Russian Federation

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Copyright (c) 2014 Nikitina Е.А., Medvedeva A.V., Zakharov G.А., Savvateeva-Popova Е.V.

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