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Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
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Mitochondrial structure and function in OCRL depleted cells.

Ron George Philip1,2, Priyanka Bhatia2, Yojet Sharma1,2

  • 1Centre for Doctoral Studies, Manipal Academy of Higher Education, Manipal, India.

Frontiers in Cell and Developmental Biology
|December 8, 2025
PubMed
Summary
This summary is machine-generated.

Lowe syndrome (LS) involves eye, brain, and kidney defects due to OCRL gene mutations. This study reveals OCRL loss causes mild, cell-type-specific mitochondrial dysfunction in neural cells.

Keywords:
Lowe syndromegliaiPSCmetabolismmitochondrianeural stem cellsneurons

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lowe syndrome (LS) is an X-linked disorder characterized by ocular, neurological, and renal abnormalities.
  • LS arises from mutations in the OCRL gene, encoding inositol polyphosphate 5-phosphatase, affecting cellular processes.
  • Previous research noted mitochondrial changes in LS patients, possibly secondary to renal issues.

Purpose of the Study:

  • To investigate the direct impact of OCRL deficiency on mitochondrial structure and function.
  • To determine if mitochondrial defects are cell-autonomous or secondary to other LS pathologies.
  • To explore the cell-type specificity of OCRL's role in mitochondrial health.

Main Methods:

  • Generated induced pluripotent stem cells (iPSCs) with OCRL depletion.
  • Differentiated OCRL-depleted iPSCs into neural stem cells and neurons.
  • Assessed mitochondrial structure, function, and transcriptome in iPSCs, neural stem cells, and neurons.

Main Results:

  • OCRL-depleted iPSCs showed no significant mitochondrial defects.
  • Neural stem cells and neurons derived from OCRL-depleted iPSCs exhibited mild mitochondrial structural and functional impairments.
  • These mitochondrial phenotypes correlated with subtle alterations in the mitochondrial transcriptome.

Conclusions:

  • Loss of OCRL leads to cell-autonomous mitochondrial defects.
  • These defects are specific to neural cell types, not present in the initial iPSCs.
  • The findings clarify OCRL's role in cellular function and LS pathogenesis.