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◆ Mutation research. Genetic toxicology and environmental mutagenesis2026-07-01

Evaluation of genetic instability in patients with amyotrophic lateral sclerosis.

Hendrew J B C Souza, Kátina M Souza, Matheus B Dos Santos, Mariane A P Silva, Tony F Grassi, Maria V Destro, Mariana G Braz

原始摘要(英文原文)· Original abstract
Genetic instability has been reported in several neurodegenerative diseases, such as Alzheimer's and Parkinson's, but only a few studies have addressed sclerosis. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Micronuclei (MNi) and nuclear buds (NBUDs) are established markers of chromosomal instability, yet no data are available regarding a possible link between genetic instability and ALS. The novelty of this case-control study lies in the assessment of genetic instability in oral exfoliated cells from ALS patients (n = 20) and matched controls (n = 20), contributing to the identification of potential novel markers related to the molecular pathogenesis of this severe disorder. Groups were matched for age, sex, and lifestyle (p > 0.05). No significant differences were observed in MNi or NBUD frequencies between groups (p > 0.05). These findings suggest no association between ALS and MN/NBUD frequencies in oral cells.
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Evaluation of genetic instability in patients with amyotrophic lateral sclerosis. — 科研速览 Science Skim