The scientists from Iceland have conducted a unique DNA study using the whole country as a genetics laboratory and its population as the study participants.
According to the researchers, they have identified previously unknown gene mutations that could be utilized in treating serious health conditions, ranging from cardiovascular ailments to Alzheimer’s disease.
For the study, the researchers involved 2,636 people from Iceland and carried a massive gene-sequencing program. The Icelanders were involved in the study on such a bigger scale because of a so-called ‘founder effect’, i.e. most of the inhabitants of the country can simply trace their lineage back to a controlled group of founding fathers, who came to the country from Europe nearly 1,100 years ago. According to the researchers, the distribution of the genetic variants is expected to be present in the remaining 325,000 Icelanders.
Kari Stefansson, chief executive of deCODE Genetics/Amgen and study’s lead investigator, said that the unique research work helped them to identify genetic mutations associated with diseases like Alzheimer’s, thyroid disorders, liver disease, atrial fibrillation and several other health conditions.
Along with genetic mutations, the study group also focused on the Icelanders who didn’t have a working copy of any particular gene. This is a condition when geneticists call knockouts. It is considered to be valuable in better understanding the pathways to ailment.
Underscoring the concept of the study, Stefansson said, “Basically, what we have is a fairly elaborated insight into the DNA sequences of the whole nation. We now have an in-depth insight into our fellow countrymen who have had a gene knocked out.”
According to the study, nearly eight percent of Icelanders don’t possess a working copy of some gene. The researchers spotted 1,171 genes not working in Icelanders with knockouts.
People with missing genetic codes are not usually prone to a disease. The fact indicates that there exists some level of built-in redundancy in the human genome, which allows certain genes to surrender their functioning without any instantly obvious impact on the overall health of a person.
Finding the redundancy is expected to contribute in better understanding why certain people suffer an ailment and others remain relatively unaffected on the other hand.
The researchers believe it could produce a more in-depth understanding of the genetic reasons of health woes, helping in improving the treatment procedure and developing new drugs for serious diseases.