Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies

Shelisa Tey, Azlina Ahmad-Annuar*, Alexander P. Drew, Nortina Shahrizaila, Garth A. Nicholson, Marina L. Kennerson

*Corresponding author for this work

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot–Marie–Tooth disease (CMT2), intellectual disability and malformations of cortical development. In addition, evidence from mouse models (Loa, catabolite repressor–activator (Cra) and Sprawling (Swl)) has shown that mutations in Dync1h1 cause a range of neurodegenerative phenotypes with motor and sensory neuron involvement. In this current study, we examined the possible contribution of other cytoplasmic dynein subunits that bind to DYNC1H1 as a cause of inherited peripheral neuropathy. We focused on screening the cytoplasmic dynein intermediate, light intermediate and light chain genes in a cohort of families with inherited peripheral neuropathies. Nine genes were screened and ten variants were detected, but none was identified as pathogenic, indicating that cytoplasmic dynein intermediate, light intermediate and light chains are not a cause of neuropathy in our cohort.

Original languageEnglish
Pages (from-to)229-235
Number of pages7
JournalNeurogenetics
Volume15
Issue number4
DOIs
Publication statusPublished - 7 Oct 2014
Externally publishedYes

Keywords

  • Charcot–Marie–Tooth (CMT)
  • Dynein
  • Dynein intermediate chains
  • Dynein light chains
  • Dynein light intermediate chains
  • Hereditary sensory neuropathies (HSN)

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