The NIH discovers a novel autoinflammatory disease and suggests a target for potential treatments.

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Scientists have discovered an autoinflammatory illness brought on by mutations in the LYN gene, a crucial immune response regulator in both health and disease. The discovery, known as Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI), provides insight into the possibility of using already-approved medications to target genes associated with certain diseases. Adriana A. de Jesus, M.D., Ph.D., and Raphaela Goldbach-Mansky, M.D., M.H.S., from the Translational Autoinflammatory Diseases Section of the Laboratory of Clinical Immunology and Microbiology at the National Institute of Allergy and Infectious Diseases (NIAID), a division of the National Institutes of Health, were the study’s principal investigators. Their findings were published in Nature Communications.

Genetic testing that identified a mutation in the LYN gene, which codes for the Lyn kinase protein, led to the initial identification of LAVLI in a paediatric patient. Later, it was found that two other mutations in the same gene were present in two additional, unrelated paediatric cases. Shortly after birth, the three patients all experienced the onset of disorders connected to the LYN genetic mutation. In the first year of life, two patients experienced the onset of liver fibrosis (large amounts of scar tissue brought on by inflammation and repetitive liver damage). All three individuals developed neutrophilic cutaneous small vessel vasculitis during pregnancy. High levels of neutrophils—white blood cells of the immune system—inflammation that might harm small blood vessels characterise this immunological illness. According to the study, the three individuals who had the LYN mutation had Lyn kinase that was perpetually active and unable to shut down, which boosted neutrophil migration, changed inflammatory signals, and activated liver cells that cause scarring and fibrosis. The findings of this study imply that Lyn kinase may be a possible therapeutic target for medications that treat various types of non-syndromic small artery vasculitis and other forms of inflammation-induced liver fibrosis.

In order to better understand the origins of infectious and immune-mediated diseases and to create better methods of preventing, detecting, and treating these illnesses, NIAID conducts and funds research at the National Institutes of Health (NIH), across the nation, and internationally. The US Department of Health and Human Services contains the National Institutes of Health (NIH), the country’s medical research organisation, as one of its 27 Institutes and Centers. The National Institutes of Health (NIH) is the main federal organisation performing and funding fundamental, clinical, and translational medical research. Its work focuses on finding the causes, prognoses, and therapies for both common and rare diseases.

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