Ásbjörg Ósk Snorradóttir is a very enthusiastic young scientist who makes the effort to work on a demanding doctoral programme, in spite of having two young children. Before Snorradóttir started on her doctorate at the University of Iceland she studied medical laboratory technology at the Technical University.
“Snorradóttir came to us to work on a student Innovation Grant and we immediately recognized her zeal and applied for a Doctoral grant for her, thus enabling her to change her small project into a doctoral programme,” says Ástríður Pálsdóttir, Molecular Biologist at Keldur, but she is Snorradóttir’s supervisor along with Birkir Þór Bragason Biologist at Keldur. “Snorradóttir is reaching very interesting conclusions and she will complete her studies this year.” The study they are working on together has the goal of discovering why a mutated protein, known as cystatin C, causes a hereditary dominant disease causing repeated strokes. The strokes eventually lead to death in the young people who carry this mutation. Pálsdóttir says that the protein causes the formation of so-called amyloid in the brain arteries in carriers; amyloid is an unnatural and undesirable precipitation of proteins in body tissue. “Despite hereditary stroke being a very rare disease there is a strong relationship here with other amyloid diseases like Alzheimer and other diseases in connective tissue,” says Pálsdóttir. Their research may therefore have implications in the treatment of more diseases than hereditary stroke.
“The study focuses on identifying cell cycles that cause this precipitation of protein and strokes. We grew skin cells from a number of carriers and compared activity in all genes in carriers and in a comparison group. The conclusions are promising; we believe we have found the cycles that explain the formation of the disease in the brains of carriers,” says Snorradóttir, she has worked on growing cells from carriers and has traced the cycle of the disease in them. “The final aim of the study is naturally to try to discover a potential treatment for the carriers,” says Snorradóttir.
The research being carried out by Snorradóttir, Bragason, and Pálsdóttir is complex and expensive, and Pálsdóttir says it is vital that funds for continuing research be guaranteed. “A young woman, who is a carrier, collected nearly 1.5 million Ikr. last summer and donated to the project, which was a great boost.”
“We know that the mutation occurred 18 generations ago, but the carriers did not manifest symptoms until 200 years ago and lived as long as others. In the 19th Century some kind of environmental factor was added, possibly dietary, which brought on symptoms in all the 16 families who carry the disease. We know that the age of carriers in all those families was shortened to around 30 years, the same as it is in these families today.
Pálsdóttir says that this malignant hereditary disease is interesting because environmental factors, maybe dietary, decide whether it manifests or not in carriers. The problem is that these environmental factors are unknown. She says that sugar consumption grew fiftyfold in the 19th Century “so sugar consumption is potentially one of the environmental factors.”
“The next step in our research is to examine the influence of various substances on the cells from the carriers, we will start with sugar and examine its influence on gene activity in cells in our search for environmental factors in the disease profile.”
