Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy  

Oleh:

Perrault, Isabelle ; Hanein, Sylvain ; Zanlonghi, Xavier ; Serre, Valerie ; Nicouleau, Michael

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 44 no. 09 (Sep. 2012), page 975–977.

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K Non-tandon: tidak ada Tandon: 1

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Isi artikel

In addition to its activity in nicotinamide adenine dinucleotide (NAD+) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity–induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells.

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