A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.
Conforti
F L
FL
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
Sprovieri
T
T
Mazzei
R
R
Ungaro
C
C
La Bella
V
V
Tessitore
A
A
Patitucci
A
A
Magariello
A
A
Gabriele
A L
AL
Tedeschi
G
G
Simone
I L
IL
Majorana
G
G
Valentino
P
P
Condino
F
F
Bono
F
F
Monsurrò
M R
MR
Muglia
M
M
Quattrone
A
A
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D019610:Cytoprotection / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012259:Ribonuclease, Pancreatic / Q000737:chemistry / Q000235:genetics*
D005819:Genetic Markers; C046366:angiogenin; D012259:Ribonuclease, Pancreatic