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Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and

Clare V Logan1, Zakia Abdel-Hamed, Colin A Johnson

  • 1Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

Molecular Neurobiology
|November 27, 2010
PubMed

Insights

Meckel-Gruber syndrome (MKS) is a severe genetic disorder causing neural tube defects. This review covers MKS genetics and insights from animal models into ciliopathies and neurodevelopment.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cell Biology

Background:

  • Meckel-Gruber syndrome (MKS) is a severe autosomal recessive disorder.
  • It is the most common syndromic form of neural tube defect, characterized by central nervous system developmental defects like occipital encephalocele.

Observation:

  • MKS is genetically heterogeneous, involving six known genes (MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, CC2D2A).
  • The proteins encoded by these genes are crucial for primary cilia function.

Findings:

  • Primary cilia are microtubule-based organelles essential for cellular signaling.
  • Cilia play a role in Wnt and Shh signaling pathways, vital for mammalian neurodevelopment.

Implications:

  • Understanding MKS genetics and ciliopathies is crucial for neurodevelopmental research.
  • Mammalian animal models offer insights into the molecular cell biology of MKS and related disorders.

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