Niemann: Picks Disease Essay -- Medicine Medical Genetics Papers

Niemann parts malady Niemann Pick malady consists of a multitude of familial disorders in which the common feature is a varying degree of sphingo medulla terminal in certain tissues of the body. According to the menstruation classification based on the enzymatic defect underlying these disorders, cardinal main groups are distinguished. The get-go group, which comprises lawsuit A, which is characterized by a pixilated deficiency in venereal disease sphingomyelinase activity, includes infantile neuronopathic form and grapheme B, an big chronic form without neurologic symptoms. In the second heterogeneous group c bothed vitrine C, neuro-visceral involvement is commodious and lipid metabolism is affected. The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick indisposition 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 strom a. In Niemann-Pick type C, the main lipid store in patients cells is not sphingomyelin but cholesterol, however, in that respect is a close race between sphingomyelin metabolism and cholesterol metabolism. Sphingomyelinase is an acid-forming lysosomal hydrolase that catalyses the cleavage of sphingomyelin to phosphoryl choline and ceramide. In patients with Picks disease its activity is lacking(predicate) in all lysosome containing tissues. Patients with type A, the infantile form have 0.7% of the shape sphingomyelinase activity with average set 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 some(prenominal) 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 intermediate Suppression of Cholesterol Synthesis and low-density lipoprotein 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 -- Medicine 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 certain 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 acidic lysosomal hydrola se 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 Suppression of Cholester ol 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.