Hermansky-Pudlak syndrome is a rare, hereditary disorder caused by a defective function of an organelle (Genetics Home Reference, 2017). This rare disease is estimated to afflict 1 in 500,000 to 1,000,000 people worldwide. Sufferers of HPS may exhibit light coloring, or pigmentation of the skin, hair, and eyes. More serious cases can include difficulty with blood clotting and pulmonary fibrosis.
The organelles which are affected by HPS genes are known as lysosome-related organelles, or LROs (Wei, 2006). More specifically, mutations in genes that function in membrane and protein trafficking. These defective proteins then affect melanocytes and pigment epithelial cells (pigment cells), which in return can alter our physical appearance.
The treatment
The organelles which are affected by HPS genes are known as lysosome-related organelles, or LROs (Wei, 2006). More specifically, mutations in genes that function in membrane and protein trafficking. These defective proteins then affect melanocytes and pigment epithelial cells (pigment cells), which in return can alter our physical appearance.
The treatment