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SLE and Kidney Damage Explained
We know of more than eighty autoimmune diseases and among the rare conditions include systemic lupus erythematosus or SLE. The immune cells attack the body's own tissues which damages organs. Scientists discovered that when a gene called VANGL-One is mutated, these patients are prone to kidney damage which increases their risk of death.
Though the same gene is essential to a developing embryo's nervous system and kidney, scientists hadn't connected it to kidney disease until recently. A new study found a recurrent genetic deletion in VANGLE-ONE that causes antibodies to build up in the kidney's glomerulus which leads to lupus nephritis or inflammation of the kidney in SLE patients.
What's being deleted in VANGLE-ONE is a region of its gene called intron seven. The more deletions in intron seven, the more likely people will develop kidney disease. Many Tiwi Islanders in the Northern Territory of Australia are missing these proteins and thus have a high rate of kidney disease. Scientists suspect that when intron seven deletions happen, either less of the VANGLE-ONE protein is made or a mutated one is made.
But experiments in mice suggest these two reasons alone are not enough to cause kidney disease; however, when there's also a buildup of autoantibodies, you get kidney inflammation. That explains why it happens in SLE patients and the hope now is new therapies can be made to limit the damage to their kidneys.
More Information
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
We identify an intronic deletion in VANGL1 that predisposes to renal injury in high risk populations through a kidney-intrinsic process. Half of all SLE patients develop nephritis, yet the predisposing mechanisms to kidney damage remain poorly understood. There is limited evidence of genetic contribution to specific organ involvement in SLE.1,2 We identify a large deletion in intron 7 of Van Gogh Like 1 (VANGL1), which associates with nephritis in SLE patients...
Researchers Uncover a Gene Mutation Linked to the Development of Kidney Disease
There are some genetic variations that are linked to an increased risk of developing kidney disease such as variations in MYH9 and APOL1 genes. Now, researchers at the Australian National University (ANU) have identified a mutation in the gene VANGL1 that causes the development of kidney disease. Further testing also revealed that the gene helps prevent the immune system from attacking the kidney...
CDC Systemic Lupus Erythematosus (SLE) Information Page
Systemic lupus erythematosus (SLE), is the most common type of lupus. SLE is an autoimmune disease in which the immune system attacks its own tissues, causing widespread inflammation and tissue damage in the affected organs. It can affect the joints, skin, brain, lungs, kidneys, and blood vessels. There is no cure for lupus, but medical interventions and lifestyle changes can help control it...
