Research Directions and labs
Research
Human genetics and disease mechanisms

I. Inaskina lab

Inna Iņaškina , Dr. biol.

Senior researcher
Phone: +371 67808210
E-mail: inna@biomed.lu.lv

Research

For the last couple of years, we have been involved in Medical Genetics and Mitochondrial research projects, focused mainly on disease developmental mechanisms at molecular level.

 Our achievements in science are related to discoveries of severe neurodegenerative and neuromuscular hereditary disease aetiologies and our recent activity in male infertility genetics.

 Our results had impact not only at the theoretical level of fundamental knowledge, but they were also applied for 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 project will improve public health through the improvement of diagnostics of patients with mitochondrial disorders and increase in general knowledge about pathophysiological effects of mitochondrial DNA variants and possible therapeutic approaches.

The other ongoing project is focused on rare inherited neuromuscular disorder research, utilizing next generation sequencing. As part of this project we have identified a specific mutation in the slow Myosin binding protein C gene MYBPC1, associated with a new, undescribed inherited neuromuscular disease phenotype. The MYBPC1 gene encodes a structural muscle protein, responsible for stabilization of thick filaments and regulation of cross-bridge cycling. The disease manifests as a myogenic tremor together with a mild myopathy. This research is done in collaboration with Dr. A. Kontrogianni’s group (University of Maryland, School of Medicine). Our partners have created a knock-in mouse model with the discovered mutation. Currently intensive collaborative work is being done on funcional research of the wild type and mutant proteins, as well as analysis of the mouse model, aimed at understanding the effects of the mutation on muscle structure and functions, and moving towards therapy.

Scientific Staff

Jānis Stāvusis , janis.stavusis@biomed.lu.lv

Jānis Stāvusis

Research assistants
Phone: +371 67808200
E-mail: janis.stavusis@biomed.lu.lv

Dita Kidere (Pelnēna) , MSc. biol., dita@biomed.lu.lv

Dita Kidere (Pelnēna) , MSc. biol.

Research assistants
Phone: +371 67808200
E-mail: dita@biomed.lu.lv

Cooperation partners

MITOCHONDRIAL RESEARCH

 

NEUROMUSCULAR DISORDERS

 

MEDICAL GENETICS

Publications


All publications

Quick links

Group quick links

Current Projects


All group projects


Mājas lapas izstrādi finansēja ERAF 2.1.1.2. aktivitātes projekts Nr. 2010/0196/2DP/2.1.1.2.0/10/APIA/VIAA/004 "Latvijas biomedicīnas pētījumu integrācija Eiropas zinātnes telpā".