Gout is a type of arthritis which happens because of a continuous and persistent increase of urate levels in the blood. It causes intense joint pain, swelling and stiffness, and occurs at locations such as the toes, elbows, wrist, fingers, and knees. Men are more likely to be affected with gout and the attacks are mostly at night without warnings. There are treatments available for the inflammation which targets the urate levels in a bid to lower it and medications that help to improve the kidney function to easily remove uric acid from the body. Without treatment, gout can lead to damage of the joints and kidneys.
Researchers from the University of Otago discovered why some people have an increased chance of having gout than others - and were able to decode a new genetic variant to this effect. Ph.D. student Sarada Ketharnathan and associate professor Julia Horsefield, both from the Department of Pathology, and also Professor Tony Merriman from the Department of Biochemistry, have worked together to characterize the genetic variant that lies next to the gene PDZK1.
The PDZK1 is responsible for the amount of serum urate as the protein product in it helps to remove the urate from the body through the gut and kidney. But when the serum urate levels are high, it leads to the formation of crystal which causes gout. “We found out that the genetic variant does not affect the PDZK1 protein, but causes changes in the amount of the PDZK1 gene produced,” Horsefield explained. “Unexpectedly, the effect of the genetic variant in humans is in the gut as well as the kidney. We confirmed this by studying the variant switches on gene expression in zebrafish embryos, which are ideal because their embryos are transparent. Our results have identified a new molecular pathway for gout, enabling new understanding of why there is gout risk in a patient with this particular genetic variant.”
She further says that there are dozens of regions in the human genome which have signals that contribute to the increase in serum urate levels leading to gout and kidney impairment. “Since many of the regions lie outside of genes, it is known how they could control urate levels and risk of gout or kidney disease,” Horsefield added. “These associated regions probably represent regulatory elements that control gene expression.”
When the genetic variation is perfectly understood about a person’s risk of gout or kidney problems, it becomes easy to prescribe treatment.
Some factors increase the risk of hyperuricemia which leads to gout:
Age And Gender: Men produce more uric acid which increases as they age which is why they are most susceptible to the condition. Women only begin producing high levels of uric acid after menopause, which is why menopausal women are also at risk of having gout.
Genetics: If you have a family history of gout, you are more likely to develop the condition.
Lifestyle: Drinking alcohol reduces kidney function and prevents quick removal of uric acid in the body.
Medications: Some medications such as diuretics and those that contain salicylate also raise the risk.
Other risk factors include overweight/obesity, surgery, lead exposure, diabetes, thyroid dysfunction, high blood pressure, and kidney diseases.
About The Author
Lisa S. Jones is a certified nurse, nutritionist, fitness coach and health expert. Her training credentials include a B.Sc. in Nursing from California State University in 2013 and Youth Nutrition Specialist Certification from the American Fitness Professionals and Associates in 2015. In 2017, she also received Holistic Nutrition Certification from the American Fitness Professionals and Associates.