Mitochondrial DNA and Alzheimer’s disease: a first case–control study of the Tunisian population

Autor: Narjes Mokni, Amel Benammar Elgaaied, Itziar de Rojas, Afef Hammami, Nizar Daouassi, Lotfi Cherni, Agustín Ruiz, Sonia Moreno-Grau, Laura Montrreal, Samia Younes, Imene Mahmoud, Mahbouba Frih-Ayed, Nesrine Ben Salem, Sami Boussetta
Rok vydání: 2021
Předmět:
Zdroj: Molecular Biology Reports. 49:1687-1700
ISSN: 1573-4978
0301-4851
Popis: 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 e4), 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 e4 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.
Databáze: OpenAIRE
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