Format

Send to

Choose Destination
See comment in PubMed Commons below
N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591.

AGC1 deficiency associated with global cerebral hypomyelination.

Author information

1
Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

Erratum in

  • N Engl J Med. 2009 Aug 13;361(7):731.

Abstract

The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein. Functional analysis of the mutant AGC1 protein showed abolished activity. The child had global hypomyelination in the cerebral hemispheres, suggesting that impaired efflux of aspartate from neuronal mitochondria prevents normal myelin formation.

PMID:
19641205
DOI:
10.1056/NEJMoa0900591
[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center