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Updated: May 10, 2026

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Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

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VPS13B maintains lysosomal homeostasis through regulation of TFEB

Soo-Kyeong Lee1, Semin Park1, Min-Young Yeom1

  • 1Department of Biological Sciences and Biotechnology, College of Life Sciences and Nanotechnology, Hannam University, 1646 Yuseong-daero, Yuseong-gu, Daejeon, 34054, Korea.

Molecular Brain
|May 8, 2026
PubMed

Insights

VPS13B protein deficiency impairs lysosomal homeostasis in Cohen syndrome (CS). This study reveals VPS13B

Area of Science:

  • Cell Biology
  • Genetics
  • Neuroscience

Background:

  • Cohen syndrome (CS) is a rare autosomal recessive neurodevelopmental disorder.
  • VPS13B's role in phosphatidylinositol 4-phosphate (PI4P) transport and mitochondrial fission was previously established.
  • The precise molecular mechanisms underlying CS pathology remain incompletely understood.

Purpose of the Study:

  • To investigate the role of VPS13B in lysosomal homeostasis.
  • To elucidate the contribution of VPS13B dysfunction to Cohen syndrome pathogenesis.

Main Methods:

  • VPS13B knockout (KO) HeLa cells and induced neurons from CS patient iPSCs were utilized.
  • Bulk RNA sequencing and quantitative RT-PCR were performed to analyze gene expression.
  • Lysosomal distribution, acidification, and TFEB (Transcription Factor EB) activity were assessed.

Main Results:

  • VPS13B KO cells displayed aberrant lysosomal distribution and reduced LAMP1-positive lysosomes.
  • Downregulation of lysosome-related genes, including those for acidification and biogenesis, was observed.
  • VPS13B deficiency impaired lysosomal acidification and altered TFEB regulation.

Conclusions:

  • VPS13B is identified as a crucial regulator of lysosomal homeostasis.
  • VPS13B dysfunction contributes to Cohen syndrome pathology by disrupting lysosomal function.
  • These findings offer new insights into the molecular basis of Cohen syndrome.

Keywords:
Cohen syndromeLysosomal acidificationLysosomeNeurodevelopmental disorderTFEBVPS13B

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