Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics

Albee Messing, Rachel Battaglia, and Peter Todd discuss the following recent publications: 

But first, revisiting the issue of “silent” mutations.

[05:02]    Xu, S.Y. et al. (2021). Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical Neurology and Neurosurgery 211, 107023 

[18:25]    Hagemann, T.L. et al. (2021). Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment. Science Translational Medicine 13, eabg4711 (in press)

[38:44]    Heaven, M.R. et al. (2021). Metabolic enzyme alterations and astrocyte dysfunction in a murine model of Alexander disease with severe reactive gliosis. Molecular and Cellular Proteomics 100180 (in press) [full text]

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Chapters

• 5:02 Type II Alexander disease with fragile X mental retardation 1 gene mutation.
• 18:25 Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment.
• 38:44 Metabolic enzyme alterations and astrocyte dysfunction in a murine model of Alexander disease with severe reactive gliosis.