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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,...
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Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
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Lysosomal diseases: diagnostic update.

Bryan Winchester1

  • 1Biochemistry Research Group, UCL Institute of Child Health at Great Ormond Street Hospital, University College London, London, UK, b.winchester@virgin.net.

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|April 9, 2014
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Summary
This summary is machine-generated.

Advancements in diagnostic technologies, including high-throughput DNA sequencing and mass spectrometry, are improving the detection of lysosomal storage diseases (LSDs). These innovations aid in diagnosing complex cases and identifying new genetic factors for better patient outcomes.

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Area of Science:

  • Biochemistry
  • Genetics
  • Medical Diagnostics

Background:

  • Lysosomal storage diseases (LSDs) diagnosis is evolving with new technologies.
  • Traditional diagnostic methods are being enhanced by modern approaches.

Purpose of the Study:

  • To review the impact of technological advancements on diagnosing LSDs.
  • To highlight the role of new methods in improving diagnostic accuracy and scope.

Main Methods:

  • Utilizing dried blood spots for automated enzyme assays.
  • Employing high-performance liquid chromatography and tandem mass spectrometry for metabolite analysis.
  • Implementing high-throughput DNA sequencing (whole or exome) for genetic diagnosis.

Main Results:

  • Novel substrates and automated methods improve lysosomal enzyme assays.
  • Advanced chromatography and mass spectrometry enable sensitive metabolite screening.
  • High-throughput DNA sequencing aids in diagnosing difficult cases and discovering new gene defects.

Conclusions:

  • Technological innovations significantly impact LSD diagnosis, enabling earlier and more accurate detection.
  • Bioinformatics is crucial for managing the data from these advanced technologies.
  • Skilled laboratory staff remain essential for reliable and accurate diagnoses despite technological progress.