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Brain-derived neurotrophic factor (Val66Met) polymorphism and olfactory ability in young adults.

Tonacci A, Borghini A, Mercuri A, Pioggia G, Andreassi MG - J. Biomed. Sci. (2013)

Bottom Line: A specific single nucleotide polymorphism of the BDNF gene, the Val66Met, modulates intracellular trafficking and activity-dependent secretion of BDNF protein.The Val66Met polymorphism was determined by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) analysis.An 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).

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ABSTRACT

Background: Brain- 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.

Results: An 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).

Conclusions: These findings appear to have implications for the evaluation of olfactory function and the relation of its impairment to cognitive decline and neurodegenerative disease.

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Related in: MedlinePlus

Impact of the BDNF Val66Met polymorphism on olfactory ability. BDNF Val66Met polymorphism and the olfactory threshold (top left), discrimination (top right), identification (bottom left) and the overall TDI Score (bottom right).
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Figure 1: Impact of the BDNF Val66Met polymorphism on olfactory ability. BDNF Val66Met polymorphism and the olfactory threshold (top left), discrimination (top right), identification (bottom left) and the overall TDI Score (bottom right).

Mentions: We investigated a possible association of BDNF Val66Met polymorphism with olfactory function in a group of young adults. Due to the low population frequency of the Met/Met genotype (<5%), participants were divided into two groups, either homozygous for the Val allele (Val/Val) or homozygous and heterozygous for the Met allele (Met/Met, Val/Met), respectively. The demographic characteristics of the study population are reported in Table 1. There was no significant difference in age, gender and smoking habits between groups. The genotype’s distribution of Val66Met polymorphism observed in both patients and controls satisfied the Hardy-Weinberg equilibrium and were comparable with that previously observed in Caucasian subjects [11]. There was significant evidence for the impact of the BDNF Val66Met polymorphism on olfactory ability. In particular, Met carriers showed impaired olfactory function compared with Val/Val carriers in all three sub-tests, as well as in the overall TDI Score. The impairment was marked in all tasks, in the case of Olfactory Threshold (5.5 ± 2.0 vs 6.5 ± 1.8, p = 0.009), Olfactory Discrimination (10.3 ± 2.5 vs 11.9 ± 2.2, p = 0.002), and Identification (13.3 ± 1.6 vs 14.1 ± 1.3, p = 0.007), as well as in the TDI Score (29.1 ± 4.5 vs 32.6 ± 3.9, p < 0.001), suggesting a clear effect of the Val/Met variant on olfactory function, as displayed in Figure 1.


Brain-derived neurotrophic factor (Val66Met) polymorphism and olfactory ability in young adults.

Tonacci A, Borghini A, Mercuri A, Pioggia G, Andreassi MG - J. Biomed. Sci. (2013)

Impact of the BDNF Val66Met polymorphism on olfactory ability. BDNF Val66Met polymorphism and the olfactory threshold (top left), discrimination (top right), identification (bottom left) and the overall TDI Score (bottom right).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3750534&req=5

Figure 1: Impact of the BDNF Val66Met polymorphism on olfactory ability. BDNF Val66Met polymorphism and the olfactory threshold (top left), discrimination (top right), identification (bottom left) and the overall TDI Score (bottom right).
Mentions: We investigated a possible association of BDNF Val66Met polymorphism with olfactory function in a group of young adults. Due to the low population frequency of the Met/Met genotype (<5%), participants were divided into two groups, either homozygous for the Val allele (Val/Val) or homozygous and heterozygous for the Met allele (Met/Met, Val/Met), respectively. The demographic characteristics of the study population are reported in Table 1. There was no significant difference in age, gender and smoking habits between groups. The genotype’s distribution of Val66Met polymorphism observed in both patients and controls satisfied the Hardy-Weinberg equilibrium and were comparable with that previously observed in Caucasian subjects [11]. There was significant evidence for the impact of the BDNF Val66Met polymorphism on olfactory ability. In particular, Met carriers showed impaired olfactory function compared with Val/Val carriers in all three sub-tests, as well as in the overall TDI Score. The impairment was marked in all tasks, in the case of Olfactory Threshold (5.5 ± 2.0 vs 6.5 ± 1.8, p = 0.009), Olfactory Discrimination (10.3 ± 2.5 vs 11.9 ± 2.2, p = 0.002), and Identification (13.3 ± 1.6 vs 14.1 ± 1.3, p = 0.007), as well as in the TDI Score (29.1 ± 4.5 vs 32.6 ± 3.9, p < 0.001), suggesting a clear effect of the Val/Met variant on olfactory function, as displayed in Figure 1.

Bottom Line: A specific single nucleotide polymorphism of the BDNF gene, the Val66Met, modulates intracellular trafficking and activity-dependent secretion of BDNF protein.The Val66Met polymorphism was determined by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) analysis.An 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).

View Article: PubMed Central - HTML - PubMed

ABSTRACT

Background: Brain- 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.

Results: An 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).

Conclusions: These findings appear to have implications for the evaluation of olfactory function and the relation of its impairment to cognitive decline and neurodegenerative disease.

Show MeSH
Related in: MedlinePlus