Related Experiment Video

Updated: May 4, 2026

Preparation of Human Tissues Embedded in Optimal Cutting Temperature Compound for Mass Spectrometry Analysis
09:09

Preparation of Human Tissues Embedded in Optimal Cutting Temperature Compound for Mass Spectrometry Analysis

Published on: April 27, 2021

2.0K

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients

Wei-Lien Chuang1, Joshua Pacheco1, Samantha Cooper1

  • 1Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.

Molecular Genetics and Metabolism
|January 15, 2014
PubMed

Insights

Niemann-Pick disease type B (NPD-B) shows elevated lyso-sphingomyelin (lyso-SPM) in dried blood spots. This finding offers a promising new biomarker for NPD-B diagnosis, distinct from sphingomyelin levels.

Area of Science:

  • Biochemistry
  • Genetics
  • Medical Diagnostics

Background:

  • Niemann-Pick disease type B (NPD-B) stems from reduced acid sphingomyelinase activity.
  • This deficiency causes sphingomyelin (SPM) buildup in macrophages.
  • Current biomarkers like plasma SPM are insufficient for NPD-B detection.

Purpose of the Study:

  • To identify a reliable biomarker for Niemann-Pick disease type B.
  • To investigate lyso-sphingomyelin (lyso-SPM) as a potential diagnostic marker.

Main Methods:

  • Analysis of dried blood spots (DBS) from NPD-B patients and healthy controls.
  • Quantification of lyso-SPM levels using mass spectrometry.

Main Results:

  • Lyso-SPM levels were approximately 5-fold higher in NPD-B patients compared to controls.
  • A clear distinction in lyso-SPM levels was observed, with no overlap between patient and control groups.
  • Plasma, whole blood, and urine SPM levels did not show significant elevation in NPD-B patients.

Conclusions:

  • Lyso-SPM in DBS is a highly sensitive and specific biomarker for Niemann-Pick disease type B.
  • This finding presents a significant advancement in diagnostic methods for NPD-B.
Keywords:
Dried blood spotLyso-sphingomyelinNiemann–Pick disease types A and BSphingomyelin

More Related Videos

Quantitative and Qualitative Method for Sphingomyelin by LC-MS Using Two Stable Isotopically Labeled Sphingomyelin Species08:53

Quantitative and Qualitative Method for Sphingomyelin by LC-MS Using Two Stable Isotopically Labeled Sphingomyelin Species

Published on: May 7, 2018

8.6K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.0K

Related Concept Videos

Asymmetric Lipid Bilayer01:35

Asymmetric Lipid Bilayer

Biological membranes show uneven distribution of different types of lipids in the inner and outer layers, resulting in transverse asymmetric membranes. The treatment of the erythrocyte membrane with the enzyme phospholipase confirmed the asymmetric nature of the lipid bilayer. The enzyme hydrolyzes lipids into fatty acids and hydrophilic groups. The phospholipase acts only on the outer layer of the membrane, while the inner layer remains intact. The phospholipase treatment resulted in 80%...
8.0K
Blood Studies for Cardiovascular System III: Serum Lipid Profile01:25

Blood Studies for Cardiovascular System III: Serum Lipid Profile

Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
854
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.5K