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Mol Biol Rep ; 49(3): 1687-1700, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34854014

ABSTRACT

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.


Subject(s)
Alzheimer Disease , DNA, Mitochondrial , Alleles , Alzheimer Disease/epidemiology , Alzheimer Disease/genetics , Apolipoprotein E4/genetics , Apolipoproteins E/genetics , Case-Control Studies , DNA, Mitochondrial/genetics , Genetic Predisposition to Disease , Genotype , Humans , Mitochondria/genetics , Polymorphism, Single Nucleotide/genetics , Tunisia/epidemiology
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