Yuki Kanazashi

Aug 6, 2024 | digitalcommons.library.tmc.edu | Yuki Kanazashi |Kazuhiro Maejima |Todd Johnson |Shota Sasagawa

The human mitochondrial genome (mtDNA) is a circular DNA molecule with a length of 16.6 kb, which contains a total of 37 genes. Somatic mtDNA mutations accumulate with age and environmental exposure, and some types of mtDNA variants may play a role in carcinogenesis. Recent studies observed mtDNA variants not only in kidney tumors but also in adjacent kidney tissues, and mtDNA dysfunction results in kidney injury, including chronic kidney disease (CKD).

Aug 6, 2024 | digitalcommons.library.tmc.edu | Kenji Tamura |Yuki Kanazashi |Chiaki Kawada |Yuya Sekine

AbstractVon Hippel-Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80-90% of patients clinically diagnosed with VHL disease. Here, we summarize the results of genetic tests for 206 Japanese VHL families, and elucidate the molecular mechanisms of VHL disease, especially in variant-negative unsolved cases.