Abstract

BackgroundBrain- derived neurotrophic factor (BDNF) is linked to neurodegenerative diseases (e.g. Alzheimer disease and Parkinson disease) which are often characterized by olfactory impairment. A specific single nucleotide polymorphism of the BDNF gene, the Val66Met, modulates intracellular trafficking and activity-dependent secretion of BDNF protein. The aim of this study was to investigate a possible association between brain- derived neurotrophic factor Val66Met polymorphism and olfactory function, a well-known biomarker for neurodegeneration, in healthy young adults. A total of 101 subjects (45 males, age 38.7 ± 9.4 years) were assessed using the Sniffin’ Sticks Extended Test, a highly reliable commercial olfactory test composed of three sub-parts, calculating olfactory threshold (sensitivity), odor discrimination and odor identification. The Val66Met polymorphism was determined by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) analysis.ResultsAn impaired function in Met carriers was found, especially when compared to subjects with Val/Val genotype, in the threshold (5.5 ± 2.0 vs 6.5 ± 1.8, p = 0.009), discrimination (10.3± 2.5 vs 11.9 ± 2.2, p = 0.002), and identification task (13.3 ± 1.6 vs 14.1 ± 1.3, p = 0.007), as well as in the overall TDI Score (29.1 ± 4.5 vs 32.6 ± 3.9, p < 0.001).ConclusionsThese findings appear to have implications for the evaluation of olfactory function and the relation of its impairment to cognitive decline and neurodegenerative disease.

Highlights

  • Brain- derived neurotrophic factor (BDNF) is linked to neurodegenerative diseases (e.g. Alzheimer disease and Parkinson disease) which are often characterized by olfactory impairment

  • There are experimental studies in animals linking the genetic variant to olfactory function [23], but, to date, little is known about this association in humans, except for a recent population-based study that showed a link between age-related olfactory decline and BDNF Val66Met polymorphism in the older age cohort (70– 90 years) [24]

  • In order to better define the influence of BDNF Val66Met polymorphism on the olfactory function, the purpose of this study was to assess a possible association between BDNF Val66Met polymorphism and olfactory ability in healthy young adults, population less subjected to comorbidities possibly associated with an olfactory dysfunction if compared with elderly people

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Summary

Introduction

Brain- derived neurotrophic factor (BDNF) is linked to neurodegenerative diseases (e.g. Alzheimer disease and Parkinson disease) which are often characterized by olfactory impairment. The aim of this study was to investigate a possible association between brain- derived neurotrophic factor Val66Met polymorphism and olfactory function, a well-known biomarker for neurodegeneration, in healthy young adults. An increasing number of animal studies, as well as clinical studies, confirm the important role of the brain- derived neurotrophic factor (BDNF) in neurodegenerative diseases [5,6,7,8,9]. There are experimental studies in animals linking the genetic variant to olfactory function [23], but, to date, little is known about this association in humans, except for a recent population-based study that showed a link between age-related olfactory decline and BDNF Val66Met polymorphism in the older age cohort (70– 90 years) [24]. In order to better define the influence of BDNF Val66Met polymorphism on the olfactory function, the purpose of this study was to assess a possible association between BDNF Val66Met polymorphism and olfactory ability in healthy young adults, population less subjected to comorbidities possibly associated with an olfactory dysfunction if compared with elderly people

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