Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
Journal of medical genetics, 2009•jmg.bmj.com
Aims and background: Mutations in the TARDBP gene, which encodes the TAR DNA
binding protein (TDP-43), have been described in individuals with familial and sporadic
amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic
ALS patients to assess the frequency of TARDBP mutations in ALS. Results: Six individuals
had potentially deleterious mutations of which three were novel including a Y374X
truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP …
binding protein (TDP-43), have been described in individuals with familial and sporadic
amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic
ALS patients to assess the frequency of TARDBP mutations in ALS. Results: Six individuals
had potentially deleterious mutations of which three were novel including a Y374X
truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP …
Aims and background
Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS.
Results
Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study.
Conclusion
Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.
jmg.bmj.com