Dr.biol. Inna Inashkina is the leading researcher (the head) of the Medical Genetics and Mitochondrial Research Group in the Latvian Biomedical Research and Study Centre, Riga, Latvia. For the last couple of years, this group has been involved in Medical Genetics and Mitochondrial research projects, focused mainly on disease developmental mechanisms at the molecular level.
Our scientific achievements are related to discoveries of severe neurodegenerative and neuromuscular hereditary disease aetiologies. Our results had impact not only at the theoretical level of fundamental knowledge, but they were also used in development of routine diagnostics in laboratories of Latvia and Lithuania.
The ongoing project „The characterization and analysis of mitochondrial DNA mutations and variants of unknown significance using transmitochondrial cytoplasmic hybrid cell models” is devoted to the characterization of mitochondrial DNA mutations and polymorphisms by analysing their individual impact on cell energy metabolism, OXPHOS system efficiency and regulation of nuclear genes via mitochondrial retrograde signalling, using transmitochondrial cytoplasmic hybrid cell models.
The other direction of our research is focused on rare inherited neuromuscular disorder research, utilizing next generation sequencing. Within the framework of the Neuromuscular disease project, we have managed to find previously unreported pathogenic variants that affect a specific region of the slow Myosin Binding Protein-C (sMyBP-C) and are associated with a neuromuscular disease phenotype – mild myopathy together with a myogenic tremor. The MYBPC1 gene encodes a structural muscle protein, responsible for stabilization of thick filaments and regulation of cross-bridge cycling. Such a combination of symptoms has not yet been described for any one disease; furthermore, until now it was considered that tremor is caused only by neurogenic defects.
In 2019 we began two new projects with the specific aim to identify novel causative genetic elements in rare inherited disease patients for whom pathogenic variants have not yet been identified by conventional genetic analysis approaches.