Abstract
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
| Original language | English |
|---|---|
| Pages (from-to) | 227-234 |
| Number of pages | 8 |
| Journal | Amyotrophic Lateral Sclerosis |
| Volume | 7 |
| Issue number | 4 |
| Publication status | Published - Dec 2006 |
Fingerprint
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis. / Cereda, Cristina; Gabanti, Elisa; Corato, Manuel; de Silvestri, Annalisa; Alimonti, Dario; Cova, Emanuela; Malaspina, Andrea; Ceroni, Mauro.
In: Amyotrophic Lateral Sclerosis, Vol. 7, No. 4, 12.2006, p. 227-234.Research output: Contribution to journal › Article
}
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
Y1 - 2006/12
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
UR - http://www.scopus.com/inward/record.url?scp=84891708657&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84891708657&partnerID=8YFLogxK
M3 - Article
C2 - 17127561
VL - 7
SP - 227
EP - 234
JO - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
JF - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
SN - 1466-0822
IS - 4
ER -