Mutations in the prion-like domain (PrLD) of hnRNPA1 and A2/B1 genes were recently identified in 2 families with inclusion body myopathy associated with Paget disease of bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis, and in ALS patients. These mutations were shown to increase the propensity of hnRNPA1 and A2/B1 proteins, which are TDP-43-binding partners, to self-aggregate. hnRNPA3 protein contains a similar PrLD and was recently described in the p62-positive/TDP-43-negative inclusions in affected tissues of C9orf72-mutated ALS/FTD patients. We screened hnRNPA1, A2/B1, and A3 genes in a cohort of 113 familial ALS (FALS) individuals without mutations in other known ALS-causative genes. We extended our analysis to 108 FALS with mutations in other ALS-associated genes and to 622 sporadic cases by screening specifically the PrLDs of hnRNPA1, A2/B1, and A3. We failed to find variants in each cohort. Our results suggest that mutations in hnRNPA1, A2/B1, and A3 genes are a rare finding in ALS.
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis / D. Calini, L. Corrado, R. Del Bo, S. Gagliardi, V. Pensato, F. Verde, S. Corti, L. Mazzini, P. Milani, B. Castellotti, C. Bertolin, G. Sorarù, C. Cereda, G.P. Comi, S. D'Alfonso, C. Gellera, N. Ticozzi, J.E. Landers, A. Ratti, V. Silani. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 34:11(2013 Nov), pp. 2695.e11-2695.e12. [10.1016/j.neurobiolaging.2013.05.025]
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
D. Calini;L. Corrado;R. Del Bo;F. Verde;S. Corti;C. Bertolin;G.P. Comi;N. Ticozzi;A. Ratti;V. Silani
2013
Abstract
Mutations in the prion-like domain (PrLD) of hnRNPA1 and A2/B1 genes were recently identified in 2 families with inclusion body myopathy associated with Paget disease of bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis, and in ALS patients. These mutations were shown to increase the propensity of hnRNPA1 and A2/B1 proteins, which are TDP-43-binding partners, to self-aggregate. hnRNPA3 protein contains a similar PrLD and was recently described in the p62-positive/TDP-43-negative inclusions in affected tissues of C9orf72-mutated ALS/FTD patients. We screened hnRNPA1, A2/B1, and A3 genes in a cohort of 113 familial ALS (FALS) individuals without mutations in other known ALS-causative genes. We extended our analysis to 108 FALS with mutations in other ALS-associated genes and to 622 sporadic cases by screening specifically the PrLDs of hnRNPA1, A2/B1, and A3. We failed to find variants in each cohort. Our results suggest that mutations in hnRNPA1, A2/B1, and A3 genes are a rare finding in ALS.File | Dimensione | Formato | |
---|---|---|---|
Calini D Neurobiol Aging 2013.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
150.47 kB
Formato
Adobe PDF
|
150.47 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
nihms-1034276.pdf
accesso aperto
Tipologia:
Pre-print (manoscritto inviato all'editore)
Dimensione
39.63 kB
Formato
Adobe PDF
|
39.63 kB | Adobe PDF | Visualizza/Apri |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.