Leading the way to a cure


Complement Mutations in End Stage Renal Disease Lupus Patients

Atkinson, John, MD

Washington University School of Medicine

With this grant, Dr. Atkinson and two colleagues (Drs. Jane Salmon and Robert Kimberly) are combining forces to determine how genetic variations in complement system genes contribute to kidney disease in people with lupus.

The complement cascade is an important part of the immune system. It helps the host to clear away pathogens like viruses and bacteria as well as damaged tissues and cells. Deficiencies in the complement system lead to lupus and contribute especially to kidney disease.

The researchers will identify variants or mutations in genes of the complement system to see how they contribute to the disease process in lupus. 

They will focus on genetic variants that may be involved in lupus-related end-stage renal disease (ESRD) in which the kidneys fail and individuals require dialysis or a kidney transplant. To do this, they will sequence genes in people with lupus-related ESRD; in those with lupus but who do not have kidney disease; and in a group of normal controls. They have two primary goals:

• Establish that mutations in the complement system increase the risk of ESRD in people with lupus

• Determine the frequency of the genetic variants in people with lupus compared to controls

What this study means for people with lupus: Identifying genetic variants that contribute to kidney damage in people with lupus will increase our knowledge of how lupus comes about and suggest alternative means to treat the disease.

1.5 million

people in the U.S. have Lupus.

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