Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

J Clin Invest. 2013 Jun;123(6):2719-29. doi: 10.1172/JCI66737. Epub 2013 May 15.

Abstract

Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system. ADLD is caused by duplication of the LMNB1 gene, which results in increased lamin B1 transcripts and protein expression. How duplication of LMNB1 leads to myelin defects is unknown. To address this question, we developed a mouse model of ADLD that overexpresses lamin B1. These mice exhibited cognitive impairment and epilepsy, followed by age-dependent motor deficits. Selective overexpression of lamin B1 in oligodendrocytes also resulted in marked motor deficits and myelin defects, suggesting these deficits are cell autonomous. Proteomic and genome-wide transcriptome studies indicated that lamin B1 overexpression is associated with downregulation of proteolipid protein, a highly abundant myelin sheath component that was previously linked to another myelin-related disorder, Pelizaeus-Merzbacher disease. Furthermore, we found that lamin B1 overexpression leads to reduced occupancy of Yin Yang 1 transcription factor at the promoter region of proteolipid protein. These studies identify a mechanism by which lamin B1 overexpression mediates oligodendrocyte cell-autonomous neuropathology in ADLD and implicate lamin B1 as an important regulator of myelin formation and maintenance during aging.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Axons / metabolism
  • Axons / pathology
  • Disease Models, Animal
  • Gait Ataxia / metabolism
  • Gait Ataxia / pathology
  • Gait Ataxia / physiopathology
  • Genetic Predisposition to Disease
  • Humans
  • Lamin Type B / genetics
  • Lamin Type B / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Motor Activity
  • Myelin Proteolipid Protein / genetics
  • Myelin Sheath / metabolism
  • Myelin Sheath / pathology
  • Oligodendroglia / metabolism
  • Oligodendroglia / pathology*
  • Pelizaeus-Merzbacher Disease / metabolism*
  • Pelizaeus-Merzbacher Disease / pathology
  • Pelizaeus-Merzbacher Disease / physiopathology
  • Promoter Regions, Genetic
  • Protein Binding
  • Rotarod Performance Test
  • Seizures / metabolism
  • Seizures / pathology
  • Seizures / physiopathology
  • YY1 Transcription Factor / metabolism

Substances

  • Lamin Type B
  • Myelin Proteolipid Protein
  • Plp1 protein, mouse
  • YY1 Transcription Factor
  • Yy1 protein, mouse

Supplementary concepts

  • Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant