Niemann: Picks Disease Essay -- Medicine Medical Genetics Papers

Niemann smacks indisposition Niemann scatter disorder consists of a group of genetic disorders in which the general feature is a vary degree of sphingomyelin storage in certain(prenominal) tissues of the body. According to the current compartmentalization based on the enzymatic demerit underlying these disorders, two primary(prenominal) groups are distinguished. The first group, which comprises event A, which is characterized by a severe privation in acid sphingomyelinase natural process, includes infantile neuronopathic track and type B, an cock-a-hoop continuing reach without neurologic symptoms. In the second base heterogeneous group called type C, neuro-visceral involvement is gigantic and lipid transfiguration is affected. The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick disease cells is impression to arise from the degradation of cells and their organelles since it is a study component of all mammal cell membranes, the myelin sheath and the red blood cell stroma. In Niemann-Pick type C, the main lipid accumulated in patients cells is non sphingomyelin but cholesterol, however, there is a close relationship between sphingomyelin metabolic process and cholesterol metabolism. Sphingomyelinase is an acidic lysosomal hydrolase that catalyses the division of sphingomyelin to phosphoryl choline and ceramide. In patients with Picks disease its body process is deficient in all lysosome containing tissues. long-sufferings with type A, the infantile form have 0.7% of the normal sphingomyelinase activity with median determine in the dictate of 0-1% , while in patients with adult onset neuronopathic or non-neuronopathic disease the activity range is 0-19% of the normal, with median values in several tissues from 2-8% . This enzyme defect explains the massive deposition of sphingomyelin in tiss... ...sh checkup Journal 295(6610)1375-1376. 4. Levade, Salvayre, Maret and Blazy. Endogenous and Exogenous Sources of Sph ingomyelinin Picks Disease A & B. (1988) Inher. Metab. Dis. 11, 151-157. 5. Maziere, M. Lageron, Polonovski. Alterations in cholesterin Metabolism in Cultured Fibroblast From Patients with N-P type C. (1987) Inher. Metab. Dis. 10, 339-346. 6.Liscum and Faust. minuscule Density Lipoprotein Mediated Suppression of Cholesterol Synthesis and LDL uptake is Defective in N-P Type C Fibroblasts. J. Biol. Chem. 262 (17002-17007). 7. Blanchette, Sokol et. al. Type C Niemann- Pick disease. (1988) J. Biol. Chem. 263, 3411-3415. 8. Levade and Gatt. Uptake and Intracellular Degradation of Flourescent Sphingomyelin by Fibroblasts From Normal Individuals and a Patient With Niemann- Pick Disease. (1987)Biochimica et Biophysica Acta 918, 250-257. Niemann Picks Disease Essay -- medical specialty Medical Genetics PapersNiemann Picks Disease Niemann Pick disease consists of a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certai n tissues of the body. According to the current classification based on the enzymatic defect underlying these disorders, two main groups are distinguished. The first group, which comprises type A, which is characterized by a severe deficiency in acid sphingomyelinase activity, includes infantile neuronopathic form and type B, an adult chronic form without neurologic symptoms. In the second heterogeneous group called type C, neuro-visceral involvement is massive and lipid metabolism is affected. The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick disease cells is thought to arise from the degradation of cells and their organelles since it is a major component of all mammalian cell membranes, the myelin sheath and the erythrocyte stroma. In Niemann-Pick type C, the main lipid accumulated in patients cells is not sphingomyelin but cholesterol, however, there is a close relationship between sphingomyelin metabolism and cholesterol metabolism. Sphingomyelinase is an a cidic lysosomal hydrolase that catalyses the cleavage of sphingomyelin to phosphoryl choline and ceramide. In patients with Picks disease its activity is deficient in all lysosome containing tissues. Patients with type A, the infantile form have 0.7% of the normal sphingomyelinase activity with median values in the range of 0-1% , while in patients with adult onset neuronopathic or non-neuronopathic disease the activity range is 0-19% of the normal, with median values in several tissues from 2-8% . This enzyme defect explains the massive deposition of sphingomyelin in tiss... ...sh Medical Journal 295(6610)1375-1376. 4. Levade, Salvayre, Maret and Blazy. Endogenous and Exogenous Sources of Sphingomyelinin Picks Disease A & B. (1988) Inher. Metab. Dis. 11, 151-157. 5. Maziere, M. Lageron, Polonovski. Alterations in Cholesterol Metabolism in Cultured Fibroblast From Patients with N-P type C. (1987) Inher. Metab. Dis. 10, 339-346. 6.Liscum and Faust. Low Density Lipoprotein Mediated S uppression of Cholesterol Synthesis and LDL Uptake is Defective in N-P Type C Fibroblasts. J. Biol. Chem. 262 (17002-17007). 7. Blanchette, Sokol et. al. Type C Niemann- Pick disease. (1988) J. Biol. Chem. 263, 3411-3415. 8. Levade and Gatt. Uptake and Intracellular Degradation of Flourescent Sphingomyelin by Fibroblasts From Normal Individuals and a Patient With Niemann- Pick Disease. (1987)Biochimica et Biophysica Acta 918, 250-257.