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Modeling of Menkes disease via human induced pluripotent stem cells

Ji-Hoon Suh1, Dongkyu Kim2, Hyemin Kim2

  • 1Graduate Schools of Medical Science and Engineering, KAIST, 291 Daehak-ro, Yuseong-gu, Daejeon 305-701, Republic of Korea.

Biochemical and Biophysical Research Communications
|January 29, 2014
PubMed

Insights

Menkes disease (MD) involves copper deficiency and neurological issues. This study reveals that problems with ATP7A in MD-derived stem cells cause abnormal cell adhesion and impaired neural development, explaining neurological symptoms.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Menkes disease (MD) is a severe neurodegenerative disorder caused by ATP7A dysfunction, leading to copper deficiency.
  • The precise mechanisms underlying neurological symptoms during embryonic development remain unclear.

Purpose of the Study:

  • To investigate the molecular and cellular phenotypes of Menkes disease-derived induced pluripotent stem cells (MD-iPSCs).
  • To elucidate the pathophysiology of neurological manifestations in Menkes disease during early development.

Main Methods:

  • Generated MD-iPSCs from patient fibroblasts.
  • Analyzed ATP7A distribution, cell morphology during embryoid body formation, and cadherin switching (E-cadherin to N-cadherin).
  • Compared MD-iPSCs with wild-type (WT)-iPSCs and copper-depleted WT-iPSCs.

Main Results:

  • Observed abnormal ATP7A distribution in MD-fibroblasts and MD-iPSCs.
  • MD-iPSCs exhibited abnormal morphology and impaired neural rosette formation during differentiation.
  • Demonstrated an aberrant switch from E-cadherin to N-cadherin in MD-iPSCs, mimicking copper-chelated WT-iPSCs.

Conclusions:

  • Neurological defects in Menkes disease may stem from aberrant cadherin transition during early development.
  • Impaired neuronal differentiation due to copper deficiency is a key factor in MD's pathophysiology.
  • MD-iPSCs serve as a valuable model for studying neurodevelopmental defects in Menkes disease.
Keywords:
CadherinInduced pluripotent stem cellsMenkesNeruonal

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