About This Project

Recent data show that the one-carbon metabolism also known as the folate-dependent metabolism pathway ( FDMP) could be implicated in neurodegeneration. We hypothesize that single nucleotide polymorphisms (SNPs) in the FDMP may contribute to increased risk for sporadic ALS (SALS). Our objectives are to sequence brain DNA from deceased ALS patients and look for associations between different SNPs as risk factor for SALS

Ask the Scientists

What is the context of this research?

The literature suggests that a defect in the FDMP could lead to neurodegeneration through genomic instability, epigenetic modification in DNA and RNA biosynthesis and dopamine and serotonin synthesis. Much work has been done on Alzheimer's disease in relation to folate deficiency but not much on ALS.

What is the significance of this project?

This project fits well in the emerging fields of nutrigenetics and nutrigenomics which are the basis of individualized therapy. Patients who have the SNPs in question could be prescribed an individualized dietary regimen to reduce their risk of developing sporadic ALS. This is a promising field for an aging population with a higher predisposition to neurodegeneration.

What are the goals of the project?

Our preliminary data has shown a strong association between one of the enzymes in the FDMP and ALS. We plan on sequencing every enzyme involved in that pathway to assess potential associations of SNPs in relation to sporadic ALS. Another short goal is to measure levels of metabolites indicative of folate-deficiency in serum collected from the deceased patients to confirm folate deficiency in ALS patients.