Slovenia: PonteSud – News Desk
Slovenian researchers have once again made a significant contribution to science. The Clinical Institute of Genomic Medicine at the University College of Ljubljana recently discovered two new genes. The PHB1 gene, which is associated with hereditary optic atrophy – a disease that can cause blindness, and the CCT3 gene, which is part of the TRiC complex – gene mutations that cause developmental abnormalities of the brain and reduced intellectual abilities.
“It all started with a patient who lost his vision – and the question arose why,” explained AleÅ¡ Maver, head of the Center for Mendelian Genomics. The Clinical Institute for Genomic Medicine, in collaboration with the Eye Clinic of the University College of Ljubljana, took a closer look at a multi-generational family with progressive vision loss. Whole-genome sequencing and functional cell studies confirmed that the optic nerve damage is caused by a mutation in the PHB1 gene, which is crucial for the functioning of mitochondria, the cellular power plants.
“This is the first description of a disease associated with this gene in humans, allowing for earlier detection, better management and potential development of treatments,” explained Maver. In addition to discovering a gene that can cause blindness, an international study involving 87 scientists from 15 countries, as a leading regional diagnostic center, helped identify a new group of diseases. These are TRiCopathies, which arise from disorders in the functioning of the TRiC complex, which is responsible for the proper folding of proteins.
“Mutations in these genes cause congenital abnormalities in brain development, epilepsy, autistic disorders and intellectual disability,” explained Gaber Bergant from the Clinical Institute of Genomic Medicine.