دورية أكاديمية
Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues
العنوان: | Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues |
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المؤلفون: | Alexander Bury, Angela Pyle, Amy E. Vincent, Paolo Actis, Gavin Hudson |
المصدر: | Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024) |
بيانات النشر: | Nature Portfolio, 2024. |
سنة النشر: | 2024 |
المجموعة: | LCC:Medicine LCC:Science |
مصطلحات موضوعية: | Medicine, Science |
الوصف: | Abstract Mitochondrial function is critical to continued cellular vitality and is an important contributor to a growing number of human diseases. Mitochondrial dysfunction is typically heterogeneous, mediated through the clonal expansion of mitochondrial DNA (mtDNA) variants in a subset of cells in a given tissue. To date, our understanding of the dynamics of clonal expansion of mtDNA variants has been technically limited to the single cell-level. Here, we report the use of nanobiopsy for subcellular sampling from human tissues, combined with next-generation sequencing to assess subcellular mtDNA mutation load in human tissue from mitochondrial disease patients. The ability to map mitochondrial mutation loads within individual cells of diseased tissue samples will further our understanding of mitochondrial genetic diseases. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2045-2322 |
Relation: | https://doaj.org/toc/2045-2322 |
DOI: | 10.1038/s41598-024-64455-0 |
URL الوصول: | https://doaj.org/article/6b1d862bea684ac68d6b137d301b38ce |
رقم الأكسشن: | edsdoj.6b1d862bea684ac68d6b137d301b38ce |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 20452322 |
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DOI: | 10.1038/s41598-024-64455-0 |