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New advances in genetic studies of Fanconi anemia patients
Date:3/2/2011

f the disease, and Brazil, where half of all patients share the same gene mutation.

Finally, researchers analysed the effects of the genetic mutations and their clinical impacts. Results indicate that these mutations provoke the absence or dysfunction of FANCA protein, which prevent it from reaching the cell nucleus and activating a DNA repair pathway necessary for genomic stability. This in turn brings about cell death - producing anaemia and abnormal tissue functions - or causes them to develop into tumours. For this reason the study of genes involved in Fanconi anaemia is essential to understand the factors which protect the general population from cancer.

Researchers verified that the fact that mutation produces protein absence or dysfunction does not determine the clinical evolution of anaemia or the severity of the malformative syndrome.

Dr Jordi Surralls highlights the importance of the study carried out given that results will have significant applications in the diagnosis, prognosis and evolution of this rare disease. For example, several of the mutations described in the article served to carry out prenatal and even pre-implant diagnoses follow by the selection of healthy and compatible embryos, with the aim of using blood from the umbilical cord for bone marrow transplants to cure siblings.


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Contact: Maria Jesus Delgado
MariaJesus.Delgado@uab.cat
34-935-814-049
Universitat Autonoma de Barcelona
Source:Eurekalert

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