TY - JOUR
T1 - Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis
AU - Belzil, Véronique V.
AU - André-Guimont, Catherine
AU - Atallah, Marie Renée
AU - Daoud, Hussein
AU - Dupré, Nicolas
AU - Bouchard, Jean Pierre
AU - Camu, William
AU - Dion, Patrick A.
AU - Rouleau, Guy A.
N1 - Funding Information:
V.V.B., H.D., and G.A.R. are supported by the Canadian Institutes of Health Research. G.A.R. holds the Canada's Research Chair in Neurogenetics and Jeanne-et-J.-Louis-Levesque Chair for the Genetics of Brain Diseases.
PY - 2012/8
Y1 - 2012/8
N2 - Background: Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in . SORT1 or aberrant . SORT1 splicing reduce progranulin level and promote neurodegeneration. Methods: We sequenced the coding exons of . SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant . SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated . TARDBP mutations. Results: We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant . SORT1 splicing event was observed. Conclusions: SORT1 mutations are not a common cause of familial ALS, and the influence of . TARDBP mutations on . SORT1 splicing still needs to be clarified.
AB - Background: Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in . SORT1 or aberrant . SORT1 splicing reduce progranulin level and promote neurodegeneration. Methods: We sequenced the coding exons of . SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant . SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated . TARDBP mutations. Results: We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant . SORT1 splicing event was observed. Conclusions: SORT1 mutations are not a common cause of familial ALS, and the influence of . TARDBP mutations on . SORT1 splicing still needs to be clarified.
KW - Amyotrophic lateral sclerosis
KW - Genetics
KW - Neuromuscular disease
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U2 - 10.1016/j.neurobiolaging.2012.01.011
DO - 10.1016/j.neurobiolaging.2012.01.011
M3 - Article
C2 - 22361451
AN - SCOPUS:84861886908
SN - 0197-4580
VL - 33
SP - 1845.e7-1845.e9
JO - Neurobiology of aging
JF - Neurobiology of aging
IS - 8
ER -