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There are four types of surfactant-associated proteins including surfactant proteins A, B, C and D. Surfactant proteins A and D play a role in maintaining a lung’s immune defense and surfactant proteins B and C are mainly involved in preventing alveolar collapse. , 2009). , 2001). The protein transports lipid and is important for surfactant homeostasis. Mutations of the ABCA3 gene lead to a disruption of the transport of surfactant phospholipids and protein from their production site to the alveolar space.
2006). Functional alterations caused by genetic polymorphism, drug inhibition or saturation of transport activities can lead to a build-up of organic anions in renal proximal tubule epithelial cells. The accumulation of drugs or metabolic wastes have the potential risk of inhibition of mitochondrial DNA synthesis, resulting in iatrogenic Fanconi syndrome. , 2003). , 2006). , 2006); therefore, knowledge of them may not only help in the development of personalized medicine but also in understanding of drug-induced nephrotoxicity.
2001). The disorder has two symptoms: sideroblastic anemia and ataxia. The blood disorder sideroblastic anemia occurs when normal, immature erythroblasts contain inclusions of iron and are called sideroblasts, which are visible in Perl’s stained bone marrow aspirate (Camaschella, 2008). People with the disorder appear to have hypochromic and microcytic red cells, due to a reduction of heme synthesis in the erythroid precursors (Camaschella, 2008). Ataxia is characterized by movement problems and trouble coordinating movement, which affect the trunk.