Publications by authors named "Kohta Nakamura"
Osimertinib, a third-generation EGFR-tyrosine kinase inhibitor, is the first-line therapy for lung cancer harboring EGFR mutations. The mechanisms underlying osimertinib resistance are diverse, with approximately half remaining unknown. Epigenetic dysregulation is implicated in drug resistance; however, the mechanisms remain unclear.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Article Synopsis
- * In a case study, whole genome sequencing revealed a variant in the MICOS10 gene that was associated with mitochondrial hepatopathy and mitochondrial DNA depletion, highlighting specific genetic alterations in the patient.
- * The findings suggest that loss of MICOS10 can lead to serious conditions like hepatopathy and neuropathy, drawing parallels with diseases linked to another gene in the MICOS complex, MICOS13.