The Evolution of Genetic Variability at the LRRK2 Locus.
Genes (Basel)
; 15(7)2024 Jul 03.
Article
em En
| MEDLINE
| ID: mdl-39062657
ABSTRACT
Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson's disease (PD), accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers a survival advantage against infection in animal models. Here, we assess haplotype variability in cis and in trans of the LRRK2 c.6055G>A mutation, define the age of the pathogenic allele, explore its relationship to the age of disease onset (AOO), and provide evidence for its positive selection.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Haplótipos
/
Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Africa
Idioma:
En
Revista:
Genes (Basel)
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos