Methylenetetrahydrofolate Reductase (MTHFR) Gene Mutations in Patients with Idiopathic Scoliosis: A Clinical Chart Review

Abstract

The effects of genetic variations of methylenetetrahydrofolate reductase (MTHFR) enzyme activity have been the discussion of many research papers. It has been associated with multiple neurological sequelae, and has been implicated in other chronic diseases. Although many genetic influences on the development and/or progression of idiopathic scoliosis have been reported, there has been no report of any relationship between MTHFR mutations and idiopathic scoliosis. This paper compared two groups of patients who received MTHFR genetic testing. One group had a history of idiopathic scoliosis, while the other served as a control group. The scoliosis group showed a positive MTHFR mutation in 23 out of 44 patients, while the control group showed 11/44 (P < 0.01). Given the increased incidence of MTHFR defects in scoliosis patients, this study warrants further investigation into how MTHFR variations may trigger the development or progression of idiopathic scoliosis.

Catechol-O-Methyl Transferase (COMT) Enzyme Gene Variations in Patients with Idiopathic Scoliosis: A Clinical Chart Review

“…showed that patients with idiopathic scoliosis had a higher rate of methylenetetrahydrofolate reductase (MTHFR) polymorphism of the A1298C allele compared with non-scoliotic controls [10]. Another enzyme in the methylation cycle, catechol-O-methyl transferase (COMT) degrades catecholamine neurotransmitters (dopamine, norepinephrine, and epinephrine) into their constituent metabolites.…”

Association of spine deformation progression in children with idiopathic scoliosis and folate cycle gene polymorphism

“…Несмотря на то что гены ферментов фолатного цикла не исследовали у больных с идиопатическим сколиозом, эти гены отвечают за активность ферментов реакций метилирования, которые от-ветственны за многие ферментные превращения, включая обмен мелатонина. Учитывая тот факт, что дефицит и аномалии сигнальной системы мелатонина служат одним из этиологических факторов идиопатического сколиоза [12,13], изменения в генах, отвечающих за кодирование в активности ферментов фолатного цикла, например МТНFR, могут быть связаны с идиопатическим сколиозом [14].…”