Τίτλος:
Human CCS gene: genomic organization and exclusion as a candidate for
amyotrophic lateral sclerosis (ALS)
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Amyotrophic lateral sclerosis (ALS) is a progressive lethal
disorder of large motor neurons of the spinal cord and brain. In
approximately 20% of the familial and 2% of sporadic cases the disease
is due to a defect in the gene encoding the cytosolic antioxidant enzyme
Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is
known only in a very small portion of the remaining cases and therefore
involvement of other genes is likely. As SOD1 receives copper, essential
for its normal function, by the copper chaperone, CCS (Copper Chaperone
for SOD), we considered CCS as a potential candidate gene for ALS.
Results: We have characterized the genomic organization of CCS and
determined exon-intron boundaries. The 823 bp coding region of the CCS
is organized in 8 exons. We have evaluated involvement of the CCS in ALS
by sequencing the entire coding region for mutations in 20 sporadic ALS
patients.
Conclusions: No causative mutations for the ALS have been detected in
the CCS gene in 20 sporadic ALS patients analyzed, but an intragenic
single nucleotide polymorphism has been identified.
Συγγραφείς:
Silahtaroglu, AN
Brondum-Nielsen, K
Gredal, O
Werdelin, L
and Panas, M
Petersen, MB
Tommerup, N
Tumer, Z
Εκδότης:
BioMed Central Ltd.
DOI:
10.1186/1471-2156-3-5
