Docent Irma Järvelä tells a story in which she meets brothers who have severe developmental disabilities, and their mother. The mother says that she often wonders about the origin of her sons’ disease. Her sons are in their fifties.
The Finnish disease heritage includes serious diseases that cause developmental disability. Some of them lead to death at an early age, such as INCL, or infantile neuronal ceroid lipofuscinosis, the subject of Järvelä’s doctoral dissertation. All of these diseases permanently change the lives of families, since there are no curative treatments.
“Some have asked me bluntly what's the point of studying incurable diseases found in such a small portion of the population,” admits Järvelä.
“But motivation has never been a problem for me. Research is all for the good – all findings lead to diagnostics, or finding the cause of a child’s condition.” It’s also about coping in the society – having a diagnosis helps the disabled person in getting support from the authorities.
Studying rare diseases is also a societal matter – having a diagnosis helps the disabled person in getting support from the authorities.
At the moment, Järvelä is investigating the DNA samples of over 200 developmentally disabled persons from Kainuu in eastern Finland. To start with, they had no diagnoses at all, but now the same disease mutation has been found in ten patients. Thus, a new disease belonging to the Finnish disease heritage may be introduced in an article to be published later this year.
Genetic research impelled by evolving techniques and curiosity
In the last decade, methods in genetic research have taken huge strides as the sequencing of the entire human genome has become widely available. What is also appreciated in the field is the opportunity to use the same methods for investigating widely varying traits.
“I identified an opportunity to apply research methods to crossdisciplinary topics as well,” says Järvelä.
Thus, research on brain disorders led Järvelä to also study the healthy brain and the genetic origin of musical talent.
“From a certain perspective, this was a risky project, but our research results have turned out to be even more fascinating than I expected,” notes Järvelä.
Before that, she had time for a breakthrough concerning the genetics of lactose intolerance. There’s a little story behind that, too.
“During my specialist training at the Children’s Hospital, I met a 16-year-old boy with congenital lactase deficiency. He wanted to know how likely it was for him to pass it on to his children.”
The disease in question, part of the Finnish disease heritage, makes the body of an infant unable to process breast milk. In developing countries such a disease, causing severe diarrhoea, would be fatal to infants, but in Finland there are special, and pricey, formulas available.
Järvelä’s interest in the subject broadened, since adult hypolactasia, a milder disorder commonly known as lactose intolerance, is found in one million Finns and occurs all across the globe in as much as half world’s entire population. She was the first to identify the genetic background of lactose intolerance, among families living in Pornainen in southern Finland.
Unlike congenital lactase deficiency, recessively inherited lactose intolerance is actually an entirely normal trait. Instead, lactose tolerance is connected with a dominant gene mutation, which has helped humans survive in nutritionally challenging conditions.
Lactose intolerance is actually an entirely normal trait. Instead, lactose tolerance is connected with a dominant gene mutation.
“From an evolutionary viewpoint, lactose tolerance has been a survival factor,” notes Järvelä. At present, a genetic test for diagnosing lactose intolerance developed by her research group is used 10,000 times a year in Finland.
But now, let’s get back to the brain. Even about the normal development of the brain only a fraction is thus far known.
Music is in the genes
“I am interested in how the infant brain is able to develop in such a wonderful manner and, on the other hand, why everything goes wrong because of a single point mutation. The contrast is enormous,” says Järvelä.
Another project of hers, focused on the genetic foundation of musical ability, is still ongoing. So far, the findings indicate that at least half of musicality can be explained by genes and the rest by environmental factors.
“I find it interesting to investigate which factors steer people towards certain fields.”
The heredity of musical talent is related to, among other things, the sense of hearing and the functions of hair cells in the ears. They are needed for perceiving sound frequencies in the cochlea of the inner ear, from where the sensation is transmitted to the cerebral cortex and the auditory centre of the brain. Furthermore, the desire to practise playing music may be up to 70 per cent genetic.
Järvelä’s study also found that listening to music has an impact on gene expression. These are the same genes that, according to prior research, are connected with the singing of songbirds. Further studies on gene regulation related to listening to music and the playing of professional musicians of the Tapiola Sinfonietta orchestra are currently being conducted by examining microRNA samples.
Docent of the Year finds her flow through pipetting
Järvelä is pleased that the distinction of Docent of the Year was this year awarded to a member of the Faculty of Medicine.
“Personally, I have never attempted any breakthroughs. For me, the driving force in research is discovery. Understanding the genetic background of lactose intolerance is considered a breakthrough, and it is indeed significant, but the premise of that study was interest and importance,” says Järvelä.
Järvelä wishes to keep her research grounded in practice, while transmitting her joy of discovery to her students.
“I find my flow through pipetting. I know it’s productive and it makes me happy, and I can’t tear myself away from the work.”