New gene mutation causing severe disease in children is found

1st July 2016

An international team of geneticists say they have found a gene mutation that leads to severe hypertrophic and dilated cardiomyopathy in children.

It is hoped the discovery will lead to better screening for cardiomyopathy in affected children.

A study of the DNA of children who were seriously ill with early onset disease had a mutation from both parents in the gene alpha-kinase3 (ALPK3), which plays an important role in the early differentiation of heart muscle cells.

All the young patients in the small study showed severe hypertrophic or dilated cardiomyopathy in the womb, at birth or in early childhood.

Twenty per cent of family members also showed signs of milder hypertrophic cardiomyopathy that developed in later years.

The results of the study, to identify new genes involved in children’s cardiomyopathy, were presented to the annual conference of the European Society of Human Genetics  by Dr Johanna Herkert, a clinical geneticist at the University Medical Centre of Groningen, The Netherlands.

The researchers mapped all the genes of two families with children with unexplained cardiomyopathy. They then looked for mutations on a candidate gene in 60 unrelated children with cardiomyopathy.  Their immediate family members were also genetically tested.

They found five children from three unrelated families with cardiomyopathy caused by mutations in ALPK3. The children with mutations from both parents had severe hypertrophic and/or dilated cardiomyopathy in utero, at birth, or in early childhood.

Deficiency of alpha-kinase 3 has previously been associated with hypertrophic and dilated cardiomyopathy in mice.

The researchers concluded that mutations from both parents in the newly identified gene ALPK3 gave rise to severe, early-onset cardiomyopathy in humans.

Dr Herkert said that although the possibility of treating an affected foetus in the womb is still a long way off, the gene could provide a development target for a drug to be give after birth but before the disease has a chance to develop further.

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