Six genetically linked mutations in the CD36 gene significantly delay the onset of Alzheimer's disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F22%3A00559238" target="_blank" >RIV/67985904:_____/22:00559238 - isvavai.cz</a>

Alternative codes found

RIV/00159816:_____/22:00077717 RIV/00064203:_____/22:10445333 RIV/00216208:11130/22:10445333 RIV/00216224:14310/22:00127724

Result on the web

<a href="https://www.nature.com/articles/s41598-022-15299-z" target="_blank" >https://www.nature.com/articles/s41598-022-15299-z</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41598-022-15299-z" target="_blank" >10.1038/s41598-022-15299-z</a>

Result language

angličtina

Original language name

Six genetically linked mutations in the CD36 gene significantly delay the onset of Alzheimer's disease

Original language description

The risk of Alzheimer's disease (AD) has a strong genetic component, also in the case of late-onset AD (LOAD). Attempts to sequence whole genome in large populations of subjects have identified only a few mutations common to most of the patients with AD. Targeting smaller well-characterized groups of subjects where specific genetic variations in selected genes could be related to precisely defined psychological traits typical of dementia is needed to better understand the heritability of AD. More than one thousand participants, categorized according to cognitive deficits, were assessed using 14 psychometric tests evaluating performance in five cognitive domains (attention/working memory, memory, language, executive functions, visuospatial functions). CD36 was selected as a gene previously shown to be implicated in the etiology of AD. A total of 174 polymorphisms were tested for associations with cognition-related traits and other AD-relevant data using the next generation sequencing. Several associations between single nucleotide polymorphisms (SNP's) and the cognitive deficits have been found (rs12667404 with language performance, rs3211827 and rs41272372 with executive functions, rs137984792 with visuospatial performance). The most prominent association was found between a group of genotypes in six genetically linked and the age at which the AD patients presented with, or developed, a full-blown dementia. The identified alleles appear to be associated with a delay in the onset of LOAD. In silico studies suggested that the SNP's alter the expression of CD36 thus potentially affecting CD36-related neuroinflammation and other molecular and cellular mechanisms known to be involved in the neuronal loss leading to AD. The main outcome of the study is an identification of a set of six new mutations apparently conferring a distinct protection against AD and delaying the onset by about 8 years. Additional mutations in CD36 associated with certain traits characteristic of the cognitive decline in AD have also been found.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30210 - Clinical neurology

Project

<a href="/en/project/NV18-04-00455" target="_blank" >NV18-04-00455: The role of CD36 gene in pathogenesis of Alzheimer´s disease</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

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

Name of the periodical

Scientific Reports

ISSN

2045-2322

e-ISSN

2045-2322

Volume of the periodical

12

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

16

Pages from-to

10994

UT code for WoS article

000818983300016

EID of the result in the Scopus database

2-s2.0-85133146381