MTHFR Gene Mutations Correlate with White Matter Disease Burden and Predict Cerebrovascular Disease and Dementia

Christian E Cajavilca; Rajan R Gadhia; Gustavo C Román

doi:10.3390/brainsci9090211

MTHFR Gene Mutations Correlate with White Matter Disease Burden and Predict Cerebrovascular Disease and Dementia

Brain Sci. 2019 Aug 22;9(9):211. doi: 10.3390/brainsci9090211.

Authors

Christian E Cajavilca¹, Rajan R Gadhia^{2

3}, Gustavo C Román^{4

5}

Affiliations

¹ Vascular Neurology, Houston Methodist Hospital Neurological Institute, Houston, TX 77030, USA.
² Vascular Neurology, Houston Methodist Hospital Neurological Institute, Houston, TX 77030, USA. rrgadhia@houstonmethodist.org.
³ Weill Cornell Medical College, Department of Neurology, Cornell University, New York, NY 10065, USA. rrgadhia@houstonmethodist.org.
⁴ Alzheimer Clinic, Houston Methodist Hospital Neurological Institute, Houston, TX 77030, USA.
⁵ Weill Cornell Medical College, Department of Neurology, Cornell University, New York, NY 10065, USA.

Abstract

The incidence of dementia is on the rise and expected to continue to increase in the foreseeable future. Two of the most common subtypes of dementia are Alzheimer's subtype and vascular dementia. Hyperhomocysteinemia has been shown to serve as a risk factor for dementia due to an associated blood-brain barrier dysfunction and subsequent small-vessel disease pathology. There are varying causes for hyperhomocysteinemia, including genetic and dietary, among others. We highlight the importance of identifying hyperhomocysteinemia as a potential etiologic and therapeutic target for the most common subtypes of dementia.

Keywords: Alzheimer’s disease; MTHFR gene; dementia; homocysteine.