지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 319 - 323 (5page)
이용수
초록· 키워드
오류제보하기
Background: Niemann Pick disease (NP) is a rare, lysosomal storage disorder due to deficiency of the intra-lysosomal enzyme acid sphingomyelinase (ASM) resulting in intracellular accumulation of sphingomyelin. We evaluated a tandem mass spectrometry (MS/MS)method to analyze ASM activity in dried blood spots (DBS) that may be suitable for laboratory diagnosis of NP including high throughput screening of at-risk populations and potentially for newborn screening.
Methods: ASM activity was measured in 3.2 mm punches from DBS. The eluate was incubated with the ASM substrate (N-Hexanoyl-D-erythro-sphingosylphosphorylcholine [C6- sphingomyelin (C29H59N2O6P)]) and an internal standard (N-butyroyl-D-erythro-sphingosine [C4-ceramide (C22H43NO3)]). ASM product and IS were analyzed using MS/MS in multiple reaction monitoring mode for transitions m/z 370.6>264.3 (ASM internal standard) and m/z 398.6>264.3 (ASM product).
Results: ASM activities were stable for up to 2 months at or below 4˚C. Position of the punch in the DBS and/or hematocrit of the DBS had a limited effect on ASM activities. Both intraand inter-assay variability were below 10%. There was no carry-over. The median ASM activity in 2,085 newborn infants was 9.5 μmol/h/L (mean 10.6) with a SD of 5.06 μmol/h/L. Six of 2,085 (0.3%) infants were found to have ASM activities below the cut-off of 2.5 μmol/h/L. ASM activities were below the cut-off level in all 10 previously diagnosed cases with NP (range: 0.16 to 2.08 μmol/h/L).
Conclusions: This MS/MS method for the measurement of ASM activity in DBS is robust and suitable for laboratory diagnosis of NP.
목차
등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Gelb MH / 2006 / Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders / J Inherit Metab
He X / 2003 / A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease
Mechtler TP / 2012 / Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria / Lancet 379 : 335 ~ 341
Schuchman EH / 2001 / Niemann-Pick Disease Types A and B: acid sphingomyelinase deficiencies, In The metabolic and molecular bases of inherited disease. 8th ed / McGraw-Hill : 3589 ~ 361
Schuchman EH / 2009 / The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease / Int J Clin Pharmacol Ther 47 (S1) : S48 ~ S57
He X / 2003 / A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease
Mechtler TP / 2012 / Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria / Lancet 379 : 335 ~ 341
Schuchman EH / 2001 / Niemann-Pick Disease Types A and B: acid sphingomyelinase deficiencies, In The metabolic and molecular bases of inherited disease. 8th ed / McGraw-Hill : 3589 ~ 361
Schuchman EH / 2009 / The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease / Int J Clin Pharmacol Ther 47 (S1) : S48 ~ S57
이 논문의 저자 정보
최근 본 자료
댓글(0)
0