Unique mutation of cystic fibrosis found in Moldova
A unique mutation of cystic fibrosis or mucoviscidosis, a hereditary disease that causes chronic respiratory diseases, digestions problems and poor growth, was found in Moldova.
Svetlana Sciuca, head of department at the State University of Medicine and Pharmaceutics “Nicolae Testemitanu”, says that the discovery was made at one of the most advanced specialized laboratories in France, where the Moldovan specialists sent bio-samples collected from a patient. The French specialists worked 6 months on the discovery.
“All information about the mutations of cystic fibrosis was presented in the International Register of Mutations, where the case from Moldova appears as a new mutation”, said the specialist.
Currently, 8 of the 2000 known forms of cystic fibrosis are attested in Moldova. The potentially lethal disease is caused by mutations of the gene called the cystic fibrosis transmembrane conductance regulator or CFTR. Most people have two such genes. The disease won’t manifest in people who have at least one healthy gene. Those who have a defective gene are carriers and might transmit the disease to their descendants.
