Fig. 1: Mitochondrial aldehyde dehydrogenase 2 (ALDH2) rs671 A-variant positively correlates with exacerbated amyloid plaque pathology in human brains.
From: The aldehyde dehydrogenase 2 rs671 variant enhances amyloid β pathology
a Association of risk factors with ALDH2 rs671 polymorphism and Alzheimer’s disease (AD)-related neuropathologic changes after adjustment for age in Chinese populations. Odds ratios and P values were calculated by ordinal logistic regression with adjustment of age using SPSS software. n = 469. b Representative image of the anatomy of the right human brain with formalin fixation. Eight brain regions were immunostained for amyloid-β (Aβ) plaque deposition to assess Aβ pathology according to National Institute on Aging/Alzheimer Association guidelines for the neuropathologic assessment of AD. c Representative images of Aβ deposits labeled with 6E10 antibody (anti-β-amyloid 1–16 antibody) in six subregions from postmortem brains with pathological AD with different rs671 genotypes. rs671 GG genotype (n = 18, 82.89 ± 7.76 yr), GA (n = 18, 84.78 ± 4.40 yr), AA (n = 8, 84.62 ± 9.76 yr). Percentage of amyloid plaque area was determined. Scale bar, 500 μm. d–f Quantification of Aβ42 and Aβ40 peptides in frozen (d) MFG homogenates, (e) STG homogenates, and (f) Hipp homogenates from the above-mentioned 44 postmortem brains with pathological AD, determined by enzyme-linked immunosorbent assay (ELISA). rs671 GG genotype (n = 18, 82.89 ± 7.76 yr), GA (n = 18, 84.78 ± 4.40 yr), AA (n = 8, 84.62 ± 9.76 y). One datapoint represents one sample per genotype. All box plots include the median line, the box indicates the interquartile range, and whiskers indicate minima and maxima. g Western blot (WB) with anti-ALDH2 in frozen MFG, STG, and Hipp subregions from postmortem brains with pathological AD with rs671 GG (81.50 ± 1.91 yr), GA (84.25 ± 7.85 yr), and AA (90.40 ± 2.79 yr) genotypes. n = 4 or 5. IPL inferior parietal lobule, MFG middle frontal gyrus, STG superior temporal gyrus, Hipp hippocampus, BG basal ganglia, VC visual cortex. Data are presented as mean values ± SD. Statistical analysis was performed using one-way analysis of variance (ANOVA) with least significant difference (LSD) post-hoc test for multiple groups. Source data are provided as a Source Data file.
