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.
- Clinical Biochemistry
- Biochemistry, medical