Genetics and Health

Chromosome Parade #6: Polycystic Kidney Disease

by Hsien Hsien Lei, PhD on January 28th, 2007

Chromosome 6 is in focus today as the chromosome parade continues on its way. Among the 1,100 to 1,600 genes on the chromosome is the polycystic kidney and hepatic disease 1 (autosomal recessive) gene also known as the PKHD1 gene at location 6p12.2. Normally, the PKHD1 gene encodes the fibrocystin protein that plays a role in how kidney cells interact with other molecules and cells. Fibrocystin is also a component of primary cilia in the kidney’s renal tubules.

Mutations in the PKHD1 gene have been associated with autosomal recessive polycystic kidney disease.

Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

Here’s a story in The Journal of friends James Herrell and Doug Miller. James suffers from polycystic kidney disease and has been on dialysis for three years. Today, Doug will donate a kidney to James at Johns Hopkins. Best wishes to them both for a successful surgery!

Tags: pkd, polycystic kidney disease, doug miller, james herrell, chromosome 6, chromosomes, pkhd1 gene, genetics, genes, dna, diseases, illness, health, kidney

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POSTED IN: Chromosome Parade, Genetics of Disease