Fanconi Anemia is a rare chromosome instability disorder. It affects one of about 350,000 new born children. Although there are ways to treat it, reported medium age of death of patients was 30 years in 2000. Now an international team of scientists announced that they figured out the cause of this rare syndrome.
It turns out the reason for this condition is so called a de novo mutation in a RAD51 gene, which is responsible for repairing damages in the DNA, which occur frequently during cell proliferation. Scientists used advanced whole genome sequencing as well as other cell and molecular biology techniques in their research. These methods allowed discovering of the mutation, which leads to Fanconi Anemia. In their research scientists studied condition of a child affected by the syndrome.
This participant of the study had healthy parents and healthy sister. This is quite important, because before scientists thought that mutations leading to Fanconi Anemia had to be derived from both parents to lead to Fanconi Anemia. In other words, they showed recessive inheritance.
Cases like of this child have never been observed before, which made scientists interested what caused the mutations and the syndrome. Scientists said that what caused Fanconi Anemia in this case was protein with the altered amino acid sequence, due to the mutation, interfering with the activity of the normal protein.
Although this all sounds very obscure, scientists say this discovery will have real practical application in counselling couples wishing to become parents. Usually when people who have relatives with Fanconi Anemia are screened if one of the 17 genes connected with the disease showed a mutation.
Now after the new findings this methodology has to be changed. Scientists also say that this research teaches them more about how the RAD51 gene product protects the DNA and how damaged DNA may lead to leukaemia and solid tumours.
Patrick May, from University of Luxembourg, said: “Of course, understanding the origins of human cancer will help us diagnose it with more confidence earlier and devise new therapies to prevent or mitigate it. We could also support a yet weak association between Fanconi Anemia and mental retardation and neurodevelopment involving mutations in proteins of the downstream branch of the Fanconi Anemia DNA repair pathway, like shown before for a gene called BRCA1 and now in this study for RAD51”.
The understanding that Fanconi Anemia does not have to be inherited directly is quite revolutionary. And now there is hope scientists will be able to develop methods to better advice soon-to-be parents about risks of this syndrome occurring.