A team from Prague’s Institute of Inherited Metabolic Disorders has discovered the genetic cause of Kufs disease, a very rare condition that leads to seizures, impaired muscle function and dementia in adult life and for which there is no cure. Scientists of the Prague institute found that the reason behind the disease is a mutation in the gene DNAJC5. Dr. Stanislav Kmoch, who worked on the project for three years with his team, speaks about the discovery.
“Kufs disease belongs into a heterogeneous group of neurodegenerative disorders called Neuronal Ceroid Lipofuscinoses, and the term means that patients who have this condition store specific lipoprotein structures in their neurons, which gradually build up and are stored and finally destroy neuron function. In this project, we analyzed about 20 families which show this phenotype, which is inherited in an autosomal dominant fashion, that means every child of an affected individual has a 50 percent change of inheriting this devastating condition from a parent. So in those families, we identified the genetic mutation that causes that phenotype.”
What exactly is the significance of this discovery for the treatment of this disease?
“As in other genetic disorders, there is no direct link between diagnosis or identification of the causing gene and treatment. For example for the condition of cystic fibrosis, the gene that causes it has been known for over 25 years, and a specific treatment method still doesn’t exist. So the more important advantage of the discovery is that we start to understand the phenotype and now we can try to understand the mechanisms that start the mutation and result in that specific phenotype.”
Is Kufs disease relatively rare and are there some numbers of how many people are affected by it worldwide?
“Yes, it is quite a rare disease and that is a field where we do research, there are some 8000 rare diseases in it and this is one of them. We know about 30 families around the world that are affected, and in the Czech Republic, we are only aware of a single family affected.”
How long did you work on this project?
“We worked three years on this particular project, but now similar projects have been greatly accelerated by novel techniques such as next generation sequencing and genome sequencing.”
I believe that the team at the Institute for Inherited Metabolic Disorders, where you work, has also made similar discoveries of genetic causes of some diseases. What other discoveries did you make?
“This is the research interest of my group, so we are interested in identifying genetic causes of various genetic disorders, and in the last few years, we discovered causal mutation in eye diseases, kidney and heart diseases. So we work on a number of medical disciplines and subjects.”
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