Source:http://linkedlifedata.com/resource/pubmed/id/12084440
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
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| pubmed:dateCreated |
2002-6-26
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| pubmed:abstractText |
Deficient activity of human lysosomal hydrolase, acid sphingomyelinase (ASM), results in the neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease (NPD). A deficiency of ASM is known to deprive lymphoblasts of their response to apoptotic induction by X-ray irradiation. To elucidate the genetic heterogeneity of apoptotic induction in NPD cells, we investigated radiation-induced apoptosis of lymphoblasts in patients with type A (genotype: IVS3-2A-G/IVS3-2A-G) and type B (genotype: S436R/S436R) NPD. Epstein-Barr virus (EBV)-transformed lymphoblasts established from a patient with type A NPD, a patient with type B NPD and a normal control were irradiated with 20 Gy and incubated for 24 h. The cells were harvested and the morphological features of apoptosis were observed with DNA-specific fluorochrome bis-benzimide. Exposure of lymphoblasts to 20 Gy of radiation resulted in 25-30% apoptosis of total cells in normal lymphoblasts, 8-9% apoptosis in type A NPD and 20-27% apoptosis in type B NPD. The radiation-induced apoptotic response in the lymphoblasts of type A NPD was significantly different from that of the normal lymphoblasts (P<0.0005). On the other hand, the radiation-induced apoptotic response in type B NPD was not markedly different from that in normal lymphoblasts (P=0.624). In the patient with type B NPD, the signaling pathway for radiation-induced apoptosis was preserved in lymphoblasts, which suggests that the extent of cell signaling system disturbance due to ASM deficiency may be related to the phenotypes in types A and B NPD.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
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| pubmed:issn |
0022-510X
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:day |
15
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| pubmed:volume |
199
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
39-43
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:12084440-Amino Acid Substitution,
pubmed-meshheading:12084440-Animals,
pubmed-meshheading:12084440-Apoptosis,
pubmed-meshheading:12084440-COS Cells,
pubmed-meshheading:12084440-Cell Line, Transformed,
pubmed-meshheading:12084440-Child, Preschool,
pubmed-meshheading:12084440-Chlorpromazine,
pubmed-meshheading:12084440-DNA Fragmentation,
pubmed-meshheading:12084440-Dopamine Antagonists,
pubmed-meshheading:12084440-Enzyme Activation,
pubmed-meshheading:12084440-Female,
pubmed-meshheading:12084440-Humans,
pubmed-meshheading:12084440-Lymphocytes,
pubmed-meshheading:12084440-Male,
pubmed-meshheading:12084440-Mutation,
pubmed-meshheading:12084440-Niemann-Pick Diseases,
pubmed-meshheading:12084440-Signal Transduction,
pubmed-meshheading:12084440-Sphingomyelin Phosphodiesterase
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| pubmed:year |
2002
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| pubmed:articleTitle |
Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease.
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| pubmed:affiliation |
Department of Pediatrics, Akita University School of Medicine, Akita 010-8543, Japan.
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| pubmed:publicationType |
Journal Article
|