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December 8, 2025Blood

HbSS mice accumulate mitochondrial DNA mutations at a significantly higher rate than HbAA and HbAS mice

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Authors

XWXunde WangYLYuesheng LiSKSayuri Kamimura

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Overview

Longitudinal study shows increased mutation accumulation in HbSS mice, indicating greater disease impact from inflammation.

Key Points

  • To explore how mitochondrial DNA mutations accumulate over time in different sickle cell disease genotypes.
  • Longitudinal analysis using Townes SCD mice model with HbAA, HbAS, and HbSS genotypes.
  • Collected blood samples at eight time points for mtDNA analysis through deep sequencing.
  • Quantified mtDNA heteroplasmy and copy number using genomic DNA extraction and statistical analysis.
  • HbSS mice showed a significantly higher mortality rate than HbAA and HbAS mice.
  • mtDNA heteroplasmy burden increased over time, especially in HbSS mice, indicating accelerated mutation accumulation.
  • Deleterious mutations notably rose in HbSS mice, suggesting a severe impact on oxidative phosphorylation genes.

Cite This Study

Wang et al. (2025) studied this question.

synapsesocial.com/papers/69362f744fa91c937236e2c0https://doi.org/10.1182/blood-2025-6481
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