EIF2B5 mutations comprise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

Article Abstract:

Cell cultures from the brain of an individual with vanishing white matter (VWM) disease carrying mutations in subunit 5 of translational initiation factor 2B (eIF2B) (encoded by EIF2B5) are determined. RNAi targeting of EIF2B5 severely compromised the induction of GFAP-expression (GFAP+) cells from normal human glial progenitors showing that the deficiency in astrocyte function might contribute to the loss of white matter in VWM leukodystrophy.

Science & research, Gene mutations, Gene mutation, Genetic aspects, Genetic disorders, Brain diseases

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In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice

Article Abstract:

Issues related to research on the central nervous system disease, metachromatic leukodystrophy, are examined, focusing on possibilities of in vivo gene therapy as a way to combat neuropathy. Topics include use of the human ARSA gene in the brain of adult mice and subsequent enzyme expression in the brain.

Central nervous system diseases

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The challenge of private biomedical research funding in Italy

Article Abstract:

The author uses the example of Italy's San Raffaele Institute as one of few private hospital/biomedical research facilities which is independent in funding as well as in direction. They were one of the first to set up a scientific ethics committee, and to integrate research with clinical applications.

Health aspects, Statistical Data Included, Italy, Finance, Medical research

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