TY - JOUR
T1 - Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis
AU - Cereda, Cristina
AU - Gabanti, Elisa
AU - Corato, Manuel
AU - De Silvestri, Annalisa
AU - Alimonti, Dario
AU - Cova, Emanuela
AU - Malaspina, Andrea
AU - Ceroni, Mauro
PY - 2006/12/1
Y1 - 2006/12/1
N2 - Flavin-containing monooxygenases (FMO) represent a gene family involved in the oxidative metabolism of a variety of xenobiotics, pesticides and drugs. A new function for FMO proteins has been recently uncovered: yeast FMO has been demonstrated to take part in maintaining the redox balance, catalysing the oxidation of reduced glutathione (GSH) to glutathione disulfide (GSSG). The GSSG/GSH balance is an important buffering system for reactive oxygen species and its involvement has been documented in ALS and other neurodegenerative disorders. Human FMO genes present different mutations, which may be related to ethnicity, altered metabolic activity and, in some cases, specific diseases. The human FMO1 gene presents 20 single nucleotide polymorphisms (SNPs) located in coding regions, intronic sequences and untranslated regions. The FMO1 gene has also recently been found underexpressed in spinal cord of ALS patients. Using SSCP and direct sequencing, we studied the allelic and genotypic frequency of two 3′UTR SNPs of the FMO1 gene in sporadic ALS patients compared to a healthy control population. We found a significantly higher frequency of these two polymorphisms, exclusive of the female population, in SALS patients compared to controls (p
AB - Flavin-containing monooxygenases (FMO) represent a gene family involved in the oxidative metabolism of a variety of xenobiotics, pesticides and drugs. A new function for FMO proteins has been recently uncovered: yeast FMO has been demonstrated to take part in maintaining the redox balance, catalysing the oxidation of reduced glutathione (GSH) to glutathione disulfide (GSSG). The GSSG/GSH balance is an important buffering system for reactive oxygen species and its involvement has been documented in ALS and other neurodegenerative disorders. Human FMO genes present different mutations, which may be related to ethnicity, altered metabolic activity and, in some cases, specific diseases. The human FMO1 gene presents 20 single nucleotide polymorphisms (SNPs) located in coding regions, intronic sequences and untranslated regions. The FMO1 gene has also recently been found underexpressed in spinal cord of ALS patients. Using SSCP and direct sequencing, we studied the allelic and genotypic frequency of two 3′UTR SNPs of the FMO1 gene in sporadic ALS patients compared to a healthy control population. We found a significantly higher frequency of these two polymorphisms, exclusive of the female population, in SALS patients compared to controls (p
KW - Flavin-containing monooxygenases (FMO)
KW - Single-nucleotide polymorphisms (SNPs)
KW - Sporadic amyotrophic lateral sclerosis (sporadic ALS)
UR - http://www.scopus.com/inward/record.url?scp=33847176637&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33847176637&partnerID=8YFLogxK
U2 - 10.1080/17482960600864413
DO - 10.1080/17482960600864413
M3 - Article
AN - SCOPUS:33847176637
SN - 1466-0822
VL - 7
SP - 233
EP - 240
JO - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
JF - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
IS - 4
ER -