Journal of Osteopathic Medicine March 2026: Exploring the impact of methylenetetrahydrofolate reductase (MTHFR) gene variations on autism spectrum disorder severity

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Access expires on Mar 19, 2029

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Credit Offered

1 AOA Category 1-B Credit

OVERVIEW
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. Its etiology is influenced by a combination of genetic and environmental factors. Variations in the methylenetetrahydrofolate reductase (MTHFR) gene, which is implicated in folate metabolism and neurodevelopment, are widespread in the autism population. Understanding the relationship between MTHFR gene variations and ASD may be critical for early diagnosis and intervention. This study aims to investigate the association between MTHFR gene variations and the severity of ASD symptoms in a clinical cohort. The goal is to determine whether reduced MTHFR activity correlates with increased symptom severity, thus offering insights into potential mechanisms and intervention strategies.

Authors: Christian C. Iannuzzelli; Andrea L. Iannuzzelli, DO; Brandon Cunha; Venkateswar Venkataraman, PhD; Wendy Aita, PhD

OBJECTIVES

Review the diagnostic criteria for autism spectrum disorder
Explain MTHFR and its role in neurodevelopmental disease
Outline the limitations of this study, specifically related to establishing causality

Expiration Date: March 19, 2029

The AOA designates this activity for a maximum of 1.0 AOA Category 1-B Credit. Physicians should claim only the credit commensurate with the extent of their participation in the activity.