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Genetic Investigation Of Methylenetetrahydrofolate Reductase (Mthfr) And Catechol-O-Methyl Transferase (Comt) In Multiple Sclerosis, Lotti Tajouri, Virginie Martin, Claudia Gasparini, Micky Ovcaric, Rob Curtain, Rod Lea, Larisa Haupt, Peter Csurhes, Michael Pender, Lyn Griffiths Apr 2006

Genetic Investigation Of Methylenetetrahydrofolate Reductase (Mthfr) And Catechol-O-Methyl Transferase (Comt) In Multiple Sclerosis, Lotti Tajouri, Virginie Martin, Claudia Gasparini, Micky Ovcaric, Rob Curtain, Rod Lea, Larisa Haupt, Peter Csurhes, Michael Pender, Lyn Griffiths

Lotti Tajouri

Multiple sclerosis (MS) is a chronic neurological disease characterized by central nervous system (CNS) inflammation and demyelination. The C677T substitution variant in the methylenetetrahydrofolate reductase (MTHFR) gene has been associated with increased levels of circulating homocysteine and is a mild risk factor for vascular disease. Higher blood levels of homocysteine have also been reported in MS. Thus, the C677T mutation of the MTHFR gene may influence MS susceptibility. Noradrenaline, a neurotransmitter believed to play an immunosupressive role in neuroinflammatory disorders, is catabolized by catechol-O-methyl transferase (COMT). The COMT G158A substitution results in a three- to four-fold decreased activity of the …


No Mutations Detected In The Insr Gene In A Chromosome 19p13 Linked Migraine Pedigree, Robert Curtain, Lotti Tajouri, Rod Lea, John Macmillan, Lyn Griffiths Dec 2005

No Mutations Detected In The Insr Gene In A Chromosome 19p13 Linked Migraine Pedigree, Robert Curtain, Lotti Tajouri, Rod Lea, John Macmillan, Lyn Griffiths

Lotti Tajouri

The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic component. At present, the number and type of genes involved in the common forms of migraine are not clear. The INSR gene on chromosome 19p13.3-13.2 is a gene of interest since a number of single nucleotide polymorphisms (SNPs) located within the gene have been implicated in migraine with (MA) and without aura …