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Updated: Apr 19, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
Published on: August 14, 2018
Molecular imaging in genetics
José Leite1, Roberta Hespanhol1, Carlos Alberto Buchpiguel2
1PET/CT, Clínica de Diagnóstico Por Imagem (CDPI), Rio de Janeiro, Rio de Janeiro, Brazil.
Abstract:
Neuroimaging is a potentially valuable tool to link individual differences in the human genome to structure and functional variations, narrowing the gaps in the casual chain from a given genetic variation to a brain disorder. Because genes are not usually expressed at the level of mental behavior, but are mediated by their molecular and cellular effects, molecular imaging could play a key role. This article reviews the literature using molecular imaging as an intermediate phenotype and/or biomarker for illness related to certain genetic alterations, focusing on the most common neurodegenerative disorders, Alzheimer's disease (AD) and Parkinson disease.
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