Discovery of Single Nucleotide Polymorphism in Polycystic Kidney Disease among South Indian (Madurai) Population

Abstract

The kidneys serve an essential regulatory role in most of the animals, including vertebrates and some invertebrates. They are important in the urinary system and also serve homeostatic functions like regulation of electrolytes, maintenance of acid-base balance and regulation of blood pressure (via maintaining salt and water balance). They also serve as natural filter of the blood and remove wastes that are diverted to the urinary bladder. By producing urine, the kidneys excrete wastes such as urea and ammonia. The kidneys are responsible for reabsorption of water, glucose, amino acids and trace elements. They also produce hormones including calcitriol, renin and erythropoietin. The kidney is approximately 11-14 cm long, 6 cm wide and 4 cm thick. Each adult kidney weighs between 125 and 170 g in males and between 115 and 155 g in females. The left kidney is typically slightly larger than the right kidney. Each kidney is made up of about 1 million microprocessor units called nephrons.

Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing

“…1,4 PKD1 maps to chromosome 16 (16p13.3) and encodes the protein polycystin-1 (PC1), while PKD2 maps to chromosome 4 (4q21-23) and encodes the protein polycystin-2 (PC2). 5,6 PC1 and PC2 are involved in establishing planar cell polarity, an important organizer of organogenesis. 7 In ADPKD patients, the amount of functional PC1 or PC2 drops significantly, causing the activation of protein kinase A (PKA) and the loss of calcium inhibitory effect on cAMP signaling.…”