- How did you first hear about Khondrion and the work the company is doing in mitochondrial disease?
Jan Smeitink and I have been colleagues since the mid-1990s. I was introduced to and became familiar with his work via congress presentations and discussions over the years, and followed his interesting work to develop therapeutic tools for mitochondrial diseases, which ultimately led to his founding of Khondrion. I have always appreciated Jan’s deep devotion to the search for a cure for this group of diseases.
- Tell us about your career and how you started in the mitochondrial disease space.
I am a medical doctor by training and entered scientific research exactly at the time when the first mitochondrial DNA (mtDNA) mutations were reported. I did my PhD from mtDNA mutations in human disease, and then characterised novel nuclear genes that cause mitochondrial disease – work which got me hooked into understanding the molecular mechanisms of this group of devastating diseases. For the past 20 years, we have developed disease models for mitochondrial diseases and pioneered characterisation of both tissue-specific and systemic, in research centres, at stress responses that play roles in manifestation and progression of the diseases.
I’ve worked in research centres at Columbia University, McGill University, UC Berkeley and Helsinki University which were focused on mitochondrial and metabolic diseases. I have led my group “Mitochondrial Medicine” in Helsinki University since 2001, where I am currently an Academy Professor. I also hold the role of chief physician in charge of mitochondrial disease diagnostics in Helsinki University Hospital.
- How are you and your colleagues on the Scientific Advisory Board helping Khondrion to achieve its goals?
The SAB provides a board of experience from different angles from the mitochondrial medicine field. Ultimately, the SAB acts as a discussion forum offering constructive criticism and strategic vision to help develop and guide Khondrion to achieve its goals.
- What are some of the biggest challenges in the mitochondrial disease space today?
The biggest challenge we face is developing targeted therapies for a group of diseases with an unprecedented variability in manifestations, tissue-specificity and underlying pathophysiology. This is especially challenging for clinical trial design, particularly when trying to construct uniform treatment groups.
In addition, recently, new preclinical data have indicated that systemic interorgan signaling modifies metabolism and disease manifestations – how relevant such complex signaling is for disease progression and treatment is still unknown and could impact the course of therapeutic development.
- What other mitochondrial disease projects are you working on?
My team is working to understand cell- and tissue-specific responses to different mitochondrial dysfunctions and metabolic pathways leading to mitochondrial disease. Our goal is to use this molecular information to develop targeted therapies. “Metabolic bypass” therapies, such as targeting specific metabolic pathways with natural metabolites and cofactors, is a promising tool for treatment of some mitochondrial diseases.
- What is your coffee order?
Oat milk latte, please.
 Saara Forsstrom, C. B. (2019). Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions. Cell Metabolism.