Researchers from the University of Aberdeen have published breakthrough findings in the American Journal of Epidemiology that shed light on the possible cause of clubfoot.
Clubfoot, known to doctors as congenital talipes equinovarus, is a common but little talked about problem of the lower leg.
The child is born with a foot pointing the wrong way - turned down and in - that cannot be placed flat on the ground in the position needed for walking.
Around 1-2 babies per 1,000 are born with the condition in the UK.
It can affect one or both feet, and often causes wasting of the calf muscle. Treatment, which begins at birth and can take years, involves multiple plaster casts, and often multiple operations.
Using funding from the charity SPARKS, the scientists analysed more than 1,000 genetic samples that were provided by members of the charity STEPS and families attending orthopaedic clinics in Scotland, Doncaster and London.
The researchers, led by clinical geneticist Zosia Miedzybrodzka and epidemiologist Linda Sharp, were able to show for the first time that variation in a gene that processes folate in the body may be part of the cause of clubfoot.
They found that babies with the less common variant of the C677T variant in the gene methyltetrahydrofolate reductase (MTHFR) are less likely to develop clubfoot.
The scientists say more work needs to be done to determine the level of this effect, the effects of other genes, and to establish the best advice on folic acid supplementation for pregnant women who have a child or relative with clubfoot.
The researchers emphasise that women should continue to take recommended levels of folic acid while planning a pregnancy or during the first three months of pregnancy.
Dr Miedzybrodzka said: “We are very excited about our findings although more research now needs to be done. Clubfoot is a common and distressing condition for children and their parents and up until now very little is known for sure about the causes of clubfoot.
“Thanks to the support of hundreds of families, the STEPS support group, orthopaedic surgeons and funding from SPARKS, we now have a key to further studies that could improve prevention and treatment of the condition in the future.”
Sue Banton, director and founder of STEPS, said: 'We are delighted to have been able to support research that may lead to a reduction in the incidence of clubfoot. “STEPS helps many families who contact us with this diagnosis. The prospect of being able to suggest action which may help future generations to avoid this condition is very exciting."
Martin Johnson CBE, President of SPARKS, said: “It’s because of conditions like clubfoot that sports people give their time to support SPARKS. “Thanks to the research we fund, many more children may get the opportunity that I had to play and enjoy sport. I am absolutely delighted that real progress is being made and we are proud to support the excellent research team in Aberdeen.”
• The B vitamin folate plays an important role in making and processing DNA in our bodies. Both the level of folate (which comes directly from food), and its synthetic form folic acid, (which comes from dietary supplements or specially fortified foods); and variations in the genes that regulate these processes, contribute to the cause of spina bifida and other disorders of development. Women are recommended to take folic acid supplements while planning a pregnancy, and for the first three months of pregnancy, to help to prevent spina bifida.
• The paper The C677T Polymorphism in the Methylenetetrahydrofolate Reductase Gene (MTHFR), Maternal Use of Folic Acid Supplements, and Risk of Isolated Clubfoot: A Case-Parent-Triad Analysis appears in the American Journal of Epidemiology