Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants inMLC1
2006; Wiley; Volume: 27; Issue: 3 Linguagem: Inglês
10.1002/humu.9407
ISSN1098-1004
AutoresGiorgia Montagna, Óscar Teijido, Eléonore Eymard‐Pierre, Koutarou Muraki, Bruce H. Cohen, Annalivia Loizzo, Pietro Grosso, Gioacchino Tedeschi, Manuel Palacı́n, Odile Boespflug‐Tanguy, Enrico Bertini, Filippo M. Santorelli, Raúl Estévez,
Tópico(s)Alzheimer's disease research and treatments
ResumoNine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu) — lying in a stretch of seven leucines — were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein. © 2006 Wiley-Liss, Inc.
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