Scientists from institutions such as the National Institute of Allergy and Infectious Diseases in the United States have identified an autoimmune disease induced by mutations in the LYN gene, which is an important regulator of the body’s immune response in both healthy and diseased states.
Neutrophilic inflammation is a hallmark of the occurrence of many monogenic autoimmune diseases. Currently, researchers are not very clear about the pathological mechanisms that regulate the spillover of destructive immune cells into surrounding tissues. Recently, in a research report published in the international journal Nature Communications titled “Consistently active Lyn kinase causes a cute small vessel vasculitis and live fibrosis syndrome”, scientists from institutions such as the National Institute of Allergy and Infectious Diseases in the United States identified an autoimmune disease induced by mutations in the LYN gene through research, The LYN gene is an important regulator of the body’s immune response in both healthy and diseased states; The disease is named Lyn kinase associated vasculopathy and liver fibrosis (LAVLI), and identifying this specific autoimmune disease may help reveal how genes associated with specific diseases can become potential targets for developing new therapies by retargeting and reusing current drugs.
LAVLI was initially discovered through genetic testing in a pediatric patient’s body. At that time, researchers detected a mutation in the LYN gene encoding the Lyn kinase protein. Subsequently, researchers discovered two mutation sites on the same gene in two unrelated pediatric patients, all of whom developed diseases related to LYN genetic mutations shortly after birth.
Two patients developed cirrhosis in their first year of life (the formation of excessive scar tissue in the liver caused by inflammation and repeated liver damage); All three patients suffered from perinatal neutrophil skin small vessel inflammation, a special immune disease characterized by inflammation caused by a large number of neutrophils (white blood cells in the body’s immune system) damaging small vessels.
Researchers pointed out that in three patients with LYN mutations, the Lyn kinase was always activated and could not be turned off, which increased neutrophil migration and altered inflammatory signals, and could activate liver cells induced by scars and fibrosis; Therefore, Lyn kinase may serve as a potential therapeutic target to help develop new therapies for treating various forms of non-syndromic small vessel inflammation and other types of inflammation-induced liver fibrosis.
In summary, this study reveals the key role of Lyn kinase in regulating inflammation signals, microvascular permeability, and neutrophils, and promoting liver fibrosis in the body.
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Reference
Adriana A. de Jesus,Guibin Chen,Dan Yang, et al. Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome, Nature Communications (2023). DOI: 10.1038/s41467-023-36941-y