UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis

作者：Daoud Hussein; Suhail Hamid; Szuto Anna; Camu William; Salachas Francois; Meininger Vincent; Bouchard Jean Pierre; Dupre Nicolas; Dion Patrick A; Rouleau Guy A^*

来源：Neurobiology of Aging, 2012, 33(9): 2230.e1.

DOI：10.1016/j.neurobiolaging.2012.03.015

• UBQLN2
• ALS
• Dementia

Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been recently identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with dementia. We report here the sequencing of the UBQLN2 gene in 590 ALS patients of French and French-Canadian ancestry. We identified two novel missense mutations (p.S155N and p.P189T) in two individuals with sporadic ALS. Bioinformatic analysis predicts that these missense mutations affect the normal protein%26apos;s function. Importantly, these findings further highlight the importance of the proline residues located in the conserved domains of the ubiquilin-2 protein, suggesting that mutations affecting these residues are particularly relevant to the development of ALS. Our findings further support a causative role of the UBQLN2 gene in the pathogenesis of ALS and suggest that UBQLN2 mutations are rare in the French and French-Canadian population.

• 出版日期2012-9