AGC1 Deficiency Associated with Global Cerebral Hypomyelination  

Oleh:

Wibom, Rolf ; Lasorsa, Francesco M. ; Tohonen, Virpi ; Barbaro, Michela

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 361 no. 05 (Jul. 2009), page 489-495 .
Topik: AGC1 Deficiency; Global Cerebral Hypomyelination

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2009.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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