Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease
نویسندگان
چکیده
منابع مشابه
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease
Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missense mutations in SMPD1 are listed in the Human Gene Mutation Database. However, not every sequence va...
متن کاملIdentification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
BACKGROUND Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were collected and investigated for genotype, phenotype, and their correlations. RESULTS The majority of ...
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Background: The protein of Niemann-pick type C1 (NPC1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. This study aimed to examine whether promoter methylation of NPC1 is associated with risk of cardiovascular disease (CVD). Methods: Fifty CVD patients and 50 healthy sub...
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In patients with Niemann-Pick disease type C (NPC), an autosomal recessive lipid storage disorder, neurodegeneration can occur in early life. Vertical ophthalmoplegia and extrapyramidal signs may be seen. Cholestatic jaundice and hepatosplenomegaly occur frequently in patients with early onset disease, with bone marrow biopsies showing diffuse infiltration of foamy histiocytes. Cholesterol este...
متن کاملNiemann-Pick disease type C: mutations of NPC1 gene and the course of disease
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder caused by mutations in the NPC1 gene in 95% of cases. Consequently, unesterifi ed cholesterol accumulates in late endosomes/lysosomes causing extremely varied neurovisceral symptoms. For many countries including Croatia, there are no reported NP-C cases to date, mainly because the accurate diagnosis of NP-C requires not e...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2015
ISSN: 1422-0067
DOI: 10.3390/ijms160613649