Association of mitochondrial genetic background with pS65-Ub in Lewy body disease

Mar 3, 2026Acta neuropathologica

Link between mitochondrial genes and a specific protein marker in Lewy body disease

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Abstract

In a study of 514 Lewy body disease brains, no individual mitochondrial DNA haplogroup was significantly associated with levels of the mitophagy marker .

  • Mitophagy is a process that helps remove damaged mitochondria to maintain cellular health.
  • Previous findings indicated a significant association between apolipoprotein E ε4 and pS65-Ub levels in the hippocampus of Lewy body disease.
  • The investigation into mitochondrial DNA variation and its effect on pS65-Ub levels did not find significant associations after correcting for multiple comparisons.
  • Mitochondrial DNA haplogroup V showed a nominal association with pS65-Ub levels, but this was not replicated in an independent cohort.
  • The results suggest that mitochondrial dysfunction may not be solely explained by major mitochondrial DNA variations.

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Key numbers

78 years
Median Age at Death
Age at death for the primary series of 514 LBD cases.
200 of 514
Heteroplasmy Count
Number of samples with at least 1 heteroplasmy in the primary series.
0.021
Nominal Association with Haplogroup V
P-value indicating a nominal association between haplogroup V and lower levels in the primary series.

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