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Tubulin-Related Malformations of Cortical Development

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Cytoskeleton and Human Disease

Abstract

The importance of the microtubule cytoskeleton during in utero brain development has emerged from a body of functional and genetic studies and was recently strengthened by the description of tubulin-related malformations of cortical development characterized by the disorganization of the cerebral cortex and the presence of ectopic neurons. Tubulin genes encoding specific isotypes of alpha- (TUBA1A, TUBA8) and beta-tubulins (TUBB2B, TUBB3) are associated with a spectrum of neuronal migration disorders ranging from a simplification of the folded aspect of the brain surface to a complete absence of folds (lissencephaly). The spectrum also encompasses forms of polymicrogyria characterized by an excessive number of small brain folds. Major axonal tract disruptions are also observed in combination with the aberrantly located neurons. Biochemical investigations have shown that an important number of the different mutations in TUBA1A, TUBB2B, and TUBB3 lead to folding and heterodimerization impairments, defective incorporation into microtubules, and/or alterations of microtubule dynamics and stability. This abnormal homeostasis of microtubules during neuronal polarization and migration might contribute to the disorganized cortical cytoarchitecture observed in patients as well as to the abnormal development of the major axon tracts connecting the cortex and various subcortical structures.

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Authors and Affiliations

  1. Laboratoire de Génétique des Maladies Neurodéveloppementales, CNRS UMR 8104, Institut Cochin, Université Paris Descartes, 75014, Paris, France

    Xavier H. Jaglin, Jamel Chelly & Nadia Bahi-Buisson

  2. Institut National de la Santé et de la Recherche Médicale (Inserm), U1016, 75014, Paris, France

    Xavier H. Jaglin, Jamel Chelly & Nadia Bahi-Buisson

  3. Inserm U1016, Institut Cochin, Université Paris Descartes, 24 rue du Faubourg Saint Jacques, 75014, Paris, France

    Nadia Bahi-Buisson

Authors
  1. Xavier H. Jaglin
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  2. Jamel Chelly
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  3. Nadia Bahi-Buisson
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Correspondence to Nadia Bahi-Buisson .

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  1. Australia for Medical Research, Iron Metabolism Program, Children's Cancer Institute, Randwick, New South Wales, Australia

    Maria Kavallaris

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Jaglin, X.H., Chelly, J., Bahi-Buisson, N. (2012). Tubulin-Related Malformations of Cortical Development. In: Kavallaris, M. (eds) Cytoskeleton and Human Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-788-0_16

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