Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F23%3A10471637" target="_blank" >RIV/00216208:11310/23:10471637 - isvavai.cz</a>

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7Cf4nZvNyY" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7Cf4nZvNyY</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12041-023-01427-9" target="_blank" >10.1007/s12041-023-01427-9</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

Popis výsledku v původním jazyce

Schizophrenia (SZ) is a highly inherited disease that affects similar to 0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient, the disease seriously interferes with the ability to function in society and affects the mental state of the patient. In most patients, the first manifestations of SZ appear during the adolescence or early adulthood. The hypothesis that SZ origin in impaired development of the nervous system is currently widely accepted. Some studies have identified several genetic and environmental factors that increase the risk of the disease manifestation, but none of them can be considered as the only cause of SZ. The genetics of the disease is complex and in last two decades it is assumed that the cryptic rearrangements could be one of its causes. Cryptic rearrangements (microdeletions and microduplications) are the chromosomal rearrangements smaller than 3-5 Mb. Their discovery was conditioned by the development of molecular genetic and molecular cytogenetic techniques. The aberrations affect one or more genes and change the gene dose. In this article, we present the rearrangements of the regions of human chromosomes more closely associated with the onset and development of SZ. Next, the candidate genes will be presented together with their inclusion in the context of theories trying to explain the origin of SZ through some important factors (e.g. action of dopamine or glutamate or GABA, formation of dendrites and neuronal synapses, etc.).

Název v anglickém jazyce

Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

Popis výsledku anglicky

Schizophrenia (SZ) is a highly inherited disease that affects similar to 0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient, the disease seriously interferes with the ability to function in society and affects the mental state of the patient. In most patients, the first manifestations of SZ appear during the adolescence or early adulthood. The hypothesis that SZ origin in impaired development of the nervous system is currently widely accepted. Some studies have identified several genetic and environmental factors that increase the risk of the disease manifestation, but none of them can be considered as the only cause of SZ. The genetics of the disease is complex and in last two decades it is assumed that the cryptic rearrangements could be one of its causes. Cryptic rearrangements (microdeletions and microduplications) are the chromosomal rearrangements smaller than 3-5 Mb. Their discovery was conditioned by the development of molecular genetic and molecular cytogenetic techniques. The aberrations affect one or more genes and change the gene dose. In this article, we present the rearrangements of the regions of human chromosomes more closely associated with the onset and development of SZ. Next, the candidate genes will be presented together with their inclusion in the context of theories trying to explain the origin of SZ through some important factors (e.g. action of dopamine or glutamate or GABA, formation of dendrites and neuronal synapses, etc.).

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Genetics

ISSN

0022-1333

e-ISSN

0973-7731

Svazek periodika

102

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

IN - Indická republika

Počet stran výsledku

10

Strana od-do

30

Kód UT WoS článku

000984879900001

EID výsledku v databázi Scopus

2-s2.0-85159002785