Tyynismaa lab projects
Genetics and molecular mechanisms of axon degeneration diseases (Axonal Charcot-Marie-Tooth neuropathy and Hereditary Spastic Paraplegia)
To identify the genetic causes of these heterogeneous neurological diseases, we utilize genome-wide next-generation sequencing approaches. We investigate the molecular mechanisms of particular disease mutations by generating patient-specific motor neurons from reprogrammed skin fibroblasts.
- Absence of NEFL demonstrated in patient-specific cultured neurons - causes early-onset neuropathy
- ATAD3A in hereditary spastic paraplegia
- MCM3AP in early-onset neuropathy and mild intellectual disability
- L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
Mitochondria in cellular proteostasis, and its tissue-specific consequences
We investigate the consequences of disturbed mitochondrial proteostasis on cell and tissue function, as well as the role of mitochondria in maintaining cellular proteostasis. In relation to human disease, we are particularly interest in mitochondrial aminoacyl-tRNA synthetases that are associated with multiple tissue-specific mitochondrial diseases.
- Redox regulation of GRPEL2, the co-chaperone of mitochondrial HSP70
- Editing activity by mitochondrial alanyl-tRNA synthetase is essential in mammals
Neurogenomics in routine diagnostics of children and adults: impact on patient care and cost-effectiveness (pHealth Academy Project)
This project aims to evaluate the effectiveness and impact of current personalised genomic technology as the first-line diagnostic tool in progressive neurological diseases of adults and children. This is a collaboration between University of Helsinki, Helsinki University Hospital, and VATT Institute for Economic Research.