Genetic determinants of swallowing impairment, recovery and responsiveness to treatment

Alicja Raginis-Zborowska, Neil Pendleton, Shaheen Hamdy, Alicja Raginis-Zborowska, Neil Pendleton, Shaheen Hamdy

Abstract

Purpose of review: Here we review the latest literature and evidence in the field of genetics and determinants of swallowing and its treatments-specifically, this is a very recent concept in the field of oropharyngeal dysphagia, with only now an emerging research interest in the relationship between our genetic makeup and the effect this has on swallowing function and dysfunction. As such our review will look at preclinical, clinical and hypothesis generating research covering all aspects of the genetics of swallowing, giving new importance to the genotype-phenotype influences pertaining to dysphagia and its recovery.

Recent findings: There appear to be a number of candidate gene systems that interact with swallowing or its neurophysiology, which include brain-derived neurotrophic factor, apolipoprotein E and catechol-O-methyltransferase, that have been shown to impact on either swallowing function or the brain's ability to respond to neurostimulation and induce plasticity. In addition, a number of genetic disorders, where dysphagia is a clinical phenomenon, have given us clues as to how multiple genes or the polygenetics of dysphagia might interact with our swallowing phenotype.

Summary: There is currently limited research in the field of genetic factors that influence (human) swallowing and oropharyngeal dysphagia, but this is an emerging science and one which, in the future, may herald a new era in precision medicine and better targeting of therapies for dysphagia based on an individual's genetic makeup.

Keywords: Dysphagia; Genes; Polymorphism; Swallowing.

Conflict of interest statement

Compliance with Ethics Guidelines Conflict of Interest Alicja Raginis-Zborowska, Neil Pendleton, and Shaheen Hamdy declare that they have no conflict of interest. Human and Animal Rights and Informed Consent This article does not contain any studies with human or animal subjects performed by any of the authors.

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Source: PubMed

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