A Trial of the Treatment by Bone Marrow Transplantation in the Niemann-Pick Mice

A new autosomal recessive gene causing sphingomyelinosis in mice is described.The disease syndrome caused by this gene has been diagnosed as an analogue of Niemann-Pick disease in humans.Affected mice cannot breed.They show neurological symptoms and weight loss beginning from around 7 weeks of age, and die at 12-14 weeks.By 8 weeks of age striking hepatosplenomegaly and marked enlargement of lymph nodes are present.Large areas of the liver and spleen are replaced by clusters of foam cells.The contents of sphingomyelin and free cholesterol in the liver and spleen are markedly elevated.But the brain shows no obvious changes in lipid concentration.Sphingomyelinase activity is reduced to about 30 percent that of the homozygous normal controls in the liver, 50 percent in the spleen and 70-80 percent in the brain.Heterozygotes are normal in both lipid concentrations and sphingomyelinase activity.