2023-08-01 12:25:30
Researchers from Idibell (Bellvitge Biomedical Research Institute) and from the Rare Diseases area of Ciber (Centro de Investigación Biomédica en Red) have led a study that has identified a new rare disease caused by defects in the RINT1 protein. This protein plays a crucial role in the regulation of fat metabolism and intracellular communication of energy production.
To discover the insufficiency of said protein, they have made use of the whole genome sequencing technology and advanced computational algorithms. The results of the research have been published in the journal Journal of Clinical Investigation and have been featured on its cover.
This new minority genetic disorder manifests in childhood and causes neurological symptoms, such as stability and balance problems when walking (ataxia), stiffness in the lower extremities (spastic paraparesis), optic nerve atrophy and skeletal malformations, in addition to a delay in neurodevelopment. Some patients may experience fulminant liver failureeven before developing neurological symptoms.
“This discovery will allow you to put your first and last name to the disease in children who go to the ICU due to liver failure, or have a delay in neurodevelopment, facilitating the diagnosis of new cases”, says Aurora Pujol, coordinator of the study at Idibell, group leader at Ciberer and Professor of Icrea Research.
“The families that we have identified in this study had not responded for 10 years. Now that we have a diagnosis, the door is open to finding a treatment. These types of projects also allow us to expand scientific knowledge and answer key questions about the regulation of lipid metabolism at the cellular level and its impact on the brain and liver,” explains Pujol.
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