Hope of cure for lupus after scientists find genetic cause

A MUTATED gene that causes the autoimmune disease lupus has been found, giving hope to Britain’s 50,000 sufferers that a cure may be on the horizon.

Scientists at London’s Francis Crick Institute discovered that a single mutation in the TLR7 gene can drive the condition, and have started working with pharmaceutical companies to find drugs that could fix the defect.

Lupus causes inflammation in organs and joints, affects movement, brings skin rashes, and causes fatigue. In severe cases, it can be deadly.

There is no cure, with treatments limited to drugs that suppress the overactive immune system and help alleviate symptoms, but which can leave patients vulnerable to other conditions.

The mutation increases the sensitivity of immune cells, making them more likely to incorrectly identify healthy tissue as foreign or damaged and attack it.

Carola Vinuesa, senior author and principal investigator at the Centre for Personalised Immunology in Australia (CAPCI), and group leader at the Crick, said: “This is the first time a TLR7 mutation has been shown to cause lupus, providing clear evidence of one way this disease can arise.”

In a study, published in the journal Nature, scientists carried out wholegenome sequencing on the DNA of a Spanish child named Gabriela, who was diagnosed with severe lupus at seven.

After discovering a TLR7 mutation, they looked for the same problem in other severe cases and found that other patients carried the same variant.

They then confirmed that the mutated gene can cause lupus by introducing it into mice, which went on to develop symptoms of the disease.

Dr Carmen de Lucas Collantes, a coauthor of the study, said: “Identification of TLR7 as the cause of lupus in this unusually severe case ended a diagnostic odyssey and brings hope for more targeted therapies.”