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Related Experiment Video

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Exploring human plasma proteomic variations in mucolipidosis type IV.

Brendan R Tobin1, Albert Misko2, Victoria Miller-Browne2

  • 1School of Chemical and Biomolecular Engineering, Georgia Institute of Technology, 315 Ferst Dr., Atlanta, GA 30332, USA.

Molecular Therapy. Methods & Clinical Development
|June 9, 2025
PubMed
Summary

Mucolipidosis IV (MLIV) patients show distinct plasma protein profiles, with decreased neuronal proteins and increased muscle proteins. Reduced synaptic proteins correlate with disease severity, offering a potential biomarker for therapeutic efficacy.

Keywords:
MCOLN1TRPML1biomarkersbloodlysosomal disordermotor functionmucolipidosisplasmaproteome

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Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • Mucolipidosis IV (MLIV) is a severe pediatric lysosomal storage disorder.
  • It results from mutations in the TRPML1 gene, leading to neurological and visual impairment.
  • Current therapeutic strategies lack validated molecular markers for efficacy assessment.

Purpose of the Study:

  • To identify a plasma proteomic signature for MLIV.
  • To correlate proteomic changes with clinical disease severity.
  • To compare human MLIV plasma findings with a mouse model brain proteome.

Main Methods:

  • Plasma proteomic analysis of 7,322 proteins from 17 MLIV patients and 37 controls.
  • Correlation of protein profiles with clinical measures (motor function, muscle tone, age).
  • Comparison of MLIV plasma proteome with MLIV mouse brain proteome.

Main Results:

  • MLIV patients exhibited decreased neuronal proteins and increased muscle proteins in plasma.
  • Reduced synaptic proteins, such as GABARAP, showed the strongest correlation with disease severity.
  • Forty-five shared protein alterations were identified between MLIV plasma and mouse brain, including lysosomal and myelination-related proteins.

Conclusions:

  • Plasma protein profiles in MLIV patients reflect underlying neuronal and muscle pathology.
  • Specific synaptic proteins may serve as sensitive biomarkers for MLIV progression.
  • The identified plasma proteomic signature mirrors brain proteome changes, validating its potential for monitoring therapeutic response.