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Variant load of mitochondrial DNA in single human mesenchymal stem cells
Daniel Hipps1,2, Angela Pyle3, Anna L R Porter3
1The Newcastle Upon Tyne Hospitals NHS Foundation, Newcastle upon Tyne, UK. daniel.hipps@nhs.net.
Scientific Reports
|September 9, 2024
Summary
Aging accumulates mitochondrial DNA (mtDNA) variants in stem cells, contributing to age-related diseases. This study found pathogenic mtDNA variants in human mesenchymal stem cells (MSCs), suggesting a role in osteoporosis.
Area of Science:
- Gerontology
- Genetics
- Molecular Biology
Background:
- Accumulation of heteroplasmic mitochondrial DNA (mtDNA) variants with age is linked to age-related diseases.
- Mitochondrial dysfunction and somatic mtDNA variants are implicated in osteoporosis in animal models, but not yet in human tissue.
- Mesenchymal stem cells (MSCs) are crucial for skeletal health and bone vitality.
Purpose of the Study:
- To investigate the presence and characteristics of somatic mtDNA variants in human MSCs.
- To explore the potential role of mitochondrial dysfunction in MSCs in the pathogenesis of osteoporosis.
Main Methods:
- Utilized fluorescence-activated cell sorting (FACS) and single-cell next-generation sequencing.
- Analyzed the landscape of somatic mtDNA variation within individual patient-derived MSCs.
Main Results:
- Confirmed the presence of somatic heteroplasmic mtDNA variants in individual human MSCs.
- Demonstrated that these variants can reach high heteroplasmic fractions.
- Identified potentially pathogenic somatic heteroplasmic variants within MSCs.
Conclusions:
- Somatic heteroplasmic mtDNA variants are present in human MSCs.
- These variants have the potential to be pathogenic and may contribute to osteoporosis development.
- Mitochondrial dysfunction in MSCs is a potential factor in osteoporosis pathogenesis.
