A team of Taiwanese researchers said Monday they had identified specific variations of a gene that is associated with a higher risk of the autoimmune disease lupus, and that a testing kit they had developed based on the finding could be available for clinical use in two years.
Lupus, technically known as systemic lupus erythematosus (SLE), is a disease in which the body’s immune system mistakenly attacks healthy tissue. The cause of the disease is unclear, though it has been linked to both genetic and environmental factors.
A team at Taiwan’s National Health Research Institutes (NHRI) has been researching SLE for over a decade, and in 2018, they found the mechanism through which excessive levels of the MAP4K3 protein leads to the autoimmune response seen in SLE patients.
On Monday, the team said in a press briefing that they had identified five genetic mutations four hereditary and one somatic that cause abnormally high amounts of the MAP4K3 protein.
Some of the mutations also prevented the functioning of a different protein, called MKRN4, which regulates MAP4K3 protein levels, the team said.
The findings suggest that individuals with these variants may be at high risk for SLE, and the team has developed a genetic testing kit aimed at these variants to help doctors with diagnosing SLE patients, they said.
The team has begun applying for a patent for the testing kit, and expects it to be available for clinical use in two years.
The NHRI team cooperated with physicians from Taichung Veterans general Hospital and Kaohsiung Medical University Hospital for the study, and the results were published in the medical journal Annals of the Rheumatic Diseases in October.
According to Hung Wei-ting, one of the physicians who worked on the research, SLE is extremely difficult to diagnose due to the wide range of symptoms it can cause.
Even with improved testing methods in recent years, it still takes an average of two years for patients to be diagnosed, Hung said, adding that there are around 20,000 SLE patients in Taiwan.