OVIEDO .- A team of Spanish researchers identified a gene that causes premature aging, and sequence for the first time in Spain the genome of a household to identify the cause of a strange disease. The study, conducted by scientists at the University of Oviedo, describes a new type of progeria (premature aging genetic syndrome) in two Spanish families.
The research, published today in the journal “American Journal of Human Genetics,” is the first of its kind carried out in Spain and provides new clues about the molecular mechanisms of human aging.
According to Carlos López-Otin, Professor of Biochemistry and Molecular Biology, University of Oviedo and the study, aging is a complex process that affects most of the biological functions of an organism, but whose molecular causes “still largely unknown, “although in recent years much has been learned.
Lopez-Otin and his team studied two patients at an early age began to show evident signs of accelerated aging, including specially highlighted bone problems.
The evaluation of the patients revealed that both had the same pathological changes, but had no mutations in two genes so far been identified in similar cases, said Dr. Rubén Cabanillas, Institute of Oncology and Molecular Medicine Asturias.
To try to identify the genetic defect responsible for this new disease, the researchers sequenced the entire genome encoding a protein of patients and that of their parents.
The sequencing of the genome of this family identified a mutation in a gene called BANF1, so far not been reported to be responsible for any illness, according to Dr. Xosé Antón Bridge, a professor at the University of Oviedo.
The molecular study of the second patient’s family confirmed the presence of the same mutation in their genome and subsequent work showed that this mutation causes a large decrease in the levels of the protein encoded by the gene BANF1.
The work also revealed that the introduction of the normal gene in cells isolated from these patients is sufficient to recover the correct structure.
This work has enabled the group at the University of Oviedo design a treatment for Hutchinson-Gilford progeria, which is currently being tested in patients worldwide.