| Autor: |
Ben Salem, Nesrine, Boussetta, Sami, de Rojas, Itziar, Moreno-Grau, Sonia, Montrreal, Laura, Mokni, Narjes, Mahmoud, Imene, Younes, Samia, Daouassi, Nizar, Frih-Ayed, Mahbouba, Hammami, Afef, Ben Ammar Elgaaied, Amel, Ruiz, Agustín, Cherni, Lotfi |
| Zdroj: |
Molecular Biology Reports; Mar2022, Vol. 49 Issue 3, p1687-1700, 14p |
| Abstrakt: |
Background: Alzheimer's disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial alteration has been proposed as a possible cause of AD. Therefore, several studies have focused on finding an association between inherited mitochondrial DNA variants and AD onset. Methods: In this study, we looked, for the first time, for a potential association between mitochondrial haplogroups or polymorphisms and AD in the Tunisian population. We also evaluated the distribution of the major genetic risk factor for AD, the apolipoprotein E epsilon 4 (APOE ε4), in this population. In total, 159 single-nucleotide polymorphisms (SNPs) of mitochondrial DNA haplogroups were genotyped in 254 individuals (58 patients and 196 controls). An additional genotyping of APOE ε4 was performed. Results: No significant association between mitochondrial haplogroups and AD was found. However, two individual SNPs, A5656G (p = 0.03821, OR = 10.46) and A13759G (p = 0.03719, OR = 10.78), showed a significant association with AD. APOE 4 was confirmed as a risk factor for AD (p = 0.000014). Conclusion: Our findings may confirm the absence of a relation between mitochondrial haplogroups and AD and support the possible involvement of some inherited variants in the pathogenicity of AD. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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