Article: Mitochondrial DNA and Alzheimer’s disease: a first case–control study of the Tunisian population
Molecular biology reports. 2022 Mar., v. 49, no. 3
2022
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 ... ...
| 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. |
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| Keywords | apolipoprotein E ; case-control studies ; etiology ; genotyping ; mitochondria ; mitochondrial DNA ; molecular biology ; neurodegenerative diseases ; pathogenicity ; risk factors |
| Language | English |
| Dates of publication | 2022-03 |
| Size | p. 1687-1700. |
| Publishing place | Springer Netherlands |
| Document type | Article |
| ZDB-ID | 186544-4 |
| ISSN | 1573-4978 ; 0301-4851 |
| ISSN (online) | 1573-4978 |
| ISSN | 0301-4851 |
| DOI | 10.1007/s11033-021-06978-7 |
| Database | NAL-Catalogue (AGRICOLA) |
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