Scientists identify new genetic disease

The disease was initially identified in a child who had a problem with the 'LYL' gene. Two additional children later had different kinds of issues in the same gene.

Scientists have identified a new type of disease that is caused by genetic or hereditary factors in the human body.

They claim that the identification of a new genetic disease called 'Lynn Kinase-Associated Vasculopathy and Liver Fibrosis' or LAVLY is an important discovery in medical science.

The new disease is associated with changes in the 'LYN' gene in the human body, which helps control how the body's defense system or immune system works, the report says, according to the science-based site Norridge.

Autoimmune diseases usually require a stimulus. But in autoinflammatory diseases, the immune system is activated by itself and starts attacking the body. This may result in inflammation of the skin, joints, and organs, among other areas of the body. Rheumatoid arthritis, Crohn's disease, and lupus are a few of the recognised illnesses.

Lavely disease was first identified in a child who had a problem with the 'LYL' gene. Later, two other children were found to have different types of problems with the same gene. All three children have had liver and blood vessel problems since childhood.

These children have had serious symptoms in which a type of white blood cell, or 'neutrophil', has damaged the small blood vessels in the skin. This condition is called 'neutrophilic cutaneous small vessel vasculitis'.

Additionally, during the first year of life, the two children's liver tissue began to accumulate scar tissue, which interfered with the liver's normal function. In medical terms, this condition is known as 'liver fibrosis'.

According to the researchers, a protein called 'Lyn kinase' produced by the 'LYL' gene in these children was abnormally active in the kidneys and was not shutting down on time. As a result, excess immune system cells spread throughout the body, intensifying inflammatory signals and various liver cells becoming overactive and forming scar tissue.

The discovery of this new disease is very important for understanding how some diseases start. Not only LaVley, but also other diseases such as vasculitis or inflammation of the blood vessels and liver fibrosis may be found from this discovery.

Scientists say that in the future, drugs can be developed that directly target the 'LYN' gene and help control such diseases.

The study has indicated how useful genetic testing can be in diagnosing rare diseases. The discovery of this new disease can also lead to new treatments for people suffering from similar health problems in the future.

Such discoveries will give doctors and scientists better ways or tools to fight diseases. At the same time, it will bring a ray of hope to those who suffer from rare and difficult diseases and their families.

Researchers say that as research progresses, we can get more effective and targeted treatments for diseases caused by genetic or hereditary problems.

The study was conducted by Dr. Adriana A. de Jesus and her research team from the National Institute of Allergy and Infectious Diseases in the United States.

Tha study's findings were released in the scholarly journal Nature Communications.