TY - JOUR
T1 - MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in Amyotrophic Lateral Sclerosis
AU - Bivona, Giulia
AU - Ciaccio, Marcello
AU - Scazzone, Concetta
AU - Colletti, Tiziana
AU - Bellia, Chiara
AU - La Bella, Vincenzo
AU - Spataro, Rossella
AU - Lo Sasso, Bruna
AU - Caruso, Antonietta
AU - Elce, Ausilia
AU - Amato, Felice
AU - Castaldo, Giuseppe
PY - 2015
Y1 - 2015
N2 - Amiotrophic lateral sclerosis (ALS) is a neurological disorderwith a multifactorial etiopathogenesis including excitotoxicity,intracellular calcium increase and mitochondrialdamage together with oxidative stress and apoptosis.Overall, the relationship between homocysteine(Hcy), motoneuron death and ALS appears to be complexand still under investigation. It has been already shownthat Hcy is elevated in plasma and cerebrospinal fluid(CSF) of ALS patients, although mechanisms ofhyperhomocysteinemia have not been elucidated yet. MTHFR C677T variant is the most common geneticdeterminant of increased homocysteinemia, but no studies regarding the effect of this polymorphism in ALS patients have been conducted. In the present study no association between MTHFRC677T and Hcy concentration in CSF or plasma is reported.Here we showed that CSF and plasma Hcy levels are correlatedin ALS patients. MTHFR C677T was not associatedwith ALS clinical variables such as rate of progression,diagnosis according to El-Escorial/WFN criteria,site of onset, and severity of the disease.
AB - Amiotrophic lateral sclerosis (ALS) is a neurological disorderwith a multifactorial etiopathogenesis including excitotoxicity,intracellular calcium increase and mitochondrialdamage together with oxidative stress and apoptosis.Overall, the relationship between homocysteine(Hcy), motoneuron death and ALS appears to be complexand still under investigation. It has been already shownthat Hcy is elevated in plasma and cerebrospinal fluid(CSF) of ALS patients, although mechanisms ofhyperhomocysteinemia have not been elucidated yet. MTHFR C677T variant is the most common geneticdeterminant of increased homocysteinemia, but no studies regarding the effect of this polymorphism in ALS patients have been conducted. In the present study no association between MTHFRC677T and Hcy concentration in CSF or plasma is reported.Here we showed that CSF and plasma Hcy levels are correlatedin ALS patients. MTHFR C677T was not associatedwith ALS clinical variables such as rate of progression,diagnosis according to El-Escorial/WFN criteria,site of onset, and severity of the disease.
UR - http://hdl.handle.net/10447/98440
M3 - Article
SN - 1434-6621
VL - 53
SP - e73-e75
JO - Clinical Chemistry and Laboratory Medicine
JF - Clinical Chemistry and Laboratory Medicine
ER -