Pregunta sobre ELA y demencia frontotemporal

Mutations of which of the following genes are most commonly associated with amyotrophic lateral sclerosis (ALS)?
A. FUS1
B. C9ORF
C. SOD1
D. VCP
E. TARDBP
The recent (2011) identification of hexarepeat expansions in chromosome 9 open reading frame 72 (C9orf72) as the cause of the most common inherited form of ALS explains most of the unknown genetic risk in ALS and reveals a strong connection with FTD. Mutant C9orf72 accounts for 30% to 50% of familial ALS, about 25% of familial FTD, and a small fraction of sporadic ALS and FTD (approximately 5% each), confirming C9orf72 as the major genetic factor in both conditions. Other genes and protein pathology further connect ALS and FTD, including TAR DNA-binding protein-4 (TDP-43), fused in sarcoma (FUS), and sequestrome-1 (SQSTM1), among others.
References
* Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum.

Descargar (PDF, 694KB)

Deja una respuesta

Tu dirección de correo electrónico no será publicada. Los campos obligatorios están marcados con *