RESEARCH: previously unknown genetic variation causes deformation among newborns


Recently a team of researchers, led by the University of Skövde, discovered a previously unknown genetic variation that causes so called Arthrogryposis AMC, deformation amongst newborns. They found a change in the DNA of a specific gene, which causes a severe form of arthrogryposis AMC, related to the more commonly known group of maladies dystonia*.

Homa Tajsharghi, professor in biomedicine at the University of Skövde, has been leading the team of researchers during the past year. The research has been executed in collaboration with Harry Perkins Institute of Medical Research i Perth, Australia, Kariminejad & Najmabadi Pathology and Genetics Center in Teheran, Iran and the Sahlgrenska Academy in Gothenburg, Sweden. Region Västra Götaland, responsible for health care and medical treatment in the region of Skövde and Gothenburg, as well as the European Commission are funding the research, which has been in progress for the past year.

Genetic changes in both parents decisive factor for deformation among newborns

The research team has been conducting laboratory tests and has modified cells with the genetic variation and the results prove that small changes in the DNA-frequency can induce the genetic change that causes a severe form of arthrogryposis AMC. AMC is a congenital condition characterized by deformities in more than two joints in different parts of the body.

– What we have discovered is that if both parents are carriers of the gene with the changed DNA- frequency the children will be born with the severe form of arthrogryposis AMC. These children are also slower in their development than their peers and to a greater extent they squint. Since we now know what causes the disease, we can help medical experts to make a correct diagnosis and we have also been provided with a better understanding of how the body's biological function works. Without knowledge, we are unable to aid the afflicted children and their families. In the long run, this knowledge can also contribute to the development of medicine. For families where both parents carry the gene, this knowledge can also translate to a different family planning, explains Homa Tajsharghi. 

The gene is inherited

It is not yet known how many children there are that are born with this severe form of arthrogryposis AMC, however the condition occurs in about 1 in 5 000 births. The specific gene has been inherited through millennia and the risk is greater when marrying someone from the same area over a longer period of time within the family. In order for children to become afflicted by this severe form of arthrogryposis AMC, both parents need to be carriers of the gene, unlike the related disease, dystonia, where just one parent carrying the dominant gene is sufficient.

The research team has studied children in Tehran, where the disease results in a poorer quality of life for the children as well as the parents. In the long run, society as a whole is also affected as it is unable to take care of the children and their families in a satisfactory manner.

*Dystonia is a disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body. Dystonia affects about 1% of the population, and women are more prone to it than men.

Homa TajsharghiHoma Tajsharghi, professor in biomedicine at the Univerity of Skövde.

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Related information

The study was published in Brain 2017-09-23