Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction

Mol Psychiatry. 2019 Nov;24(11):1641-1654. doi: 10.1038/s41380-019-0505-2. Epub 2019 Sep 3.

Abstract

Although the underlying neurobiology of major mental illness (MMI) remains unknown, emerging evidence implicates a role for oligodendrocyte-myelin abnormalities. Here, we took advantage of a large family carrying a balanced t(1;11) translocation, which substantially increases risk of MMI, to undertake both diffusion tensor imaging and cellular studies to evaluate the consequences of the t(1;11) translocation on white matter structural integrity and oligodendrocyte-myelin biology. This translocation disrupts among others the DISC1 gene which plays a crucial role in brain development. We show that translocation-carrying patients display significant disruption of white matter integrity compared with familial controls. At a cellular level, we observe dysregulation of key pathways controlling oligodendrocyte development and morphogenesis in induced pluripotent stem cell (iPSC) derived case oligodendrocytes. This is associated with reduced proliferation and a stunted morphology in vitro. Further, myelin internodes in a humanized mouse model that recapitulates the human translocation as well as after transplantation of t(1;11) oligodendrocyte progenitors were significantly reduced when compared with controls. Thus we provide evidence that the t(1;11) translocation has biological effects at both the systems and cellular level that together suggest oligodendrocyte-myelin dysfunction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 11 / genetics
  • Diffusion Tensor Imaging / methods
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Male
  • Mental Disorders / genetics
  • Mice
  • Middle Aged
  • Myelin Sheath / metabolism*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Oligodendroglia / metabolism*
  • Translocation, Genetic / genetics*
  • White Matter / metabolism
  • White Matter / physiology

Substances

  • DISC1 protein, human
  • Disc1 protein, mouse
  • Nerve Tissue Proteins