scholarly journals The Prevalence of the Val66Met Polymorphism in Musicians: Possible Evidence for Compensatory Neuroplasticity from a pilot study

2020 ◽  
Author(s):  
T.L. Henechowicz ◽  
J.L. Chen ◽  
L.G. Cohen ◽  
M.H. Thaut
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Pilot Study ◽  
Motor Learning ◽  
Neurotrophic Factor ◽  
Human Genome Project ◽  
Genome Project ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Val66met Polymorphism

AbstractIt has been reported that MET carriers may express deficits in motor learning and neuroplasticity, possibly deterring musicianship. Here, we compared the prevalence of the Val66Met Brain-derived Neurotrophic Factor single nucleotide polymorphism (rs6265) in a sample of musicians (N=50) and an ethnically matched subset from the 1000 Human Genome Project (N-424). We report no differences in genotype or allele frequencies. Results are consistent with the view that hypothesized Met-dependent deficits in neuroplasticity are either mild or can be overcome by long-term practice.

scholarly journals The prevalence of the Val66Met polymorphism in musicians: Possible evidence for compensatory neuroplasticity from a pilot study

PLoS ONE ◽  
2021 ◽  
Vol 16 (6) ◽  
pp. e0245107
Author(s):  
Tara L. Henechowicz ◽  
Joyce L. Chen ◽  
Leonardo G. Cohen ◽  
Michael H. Thaut
Keyword(s):  
General Population ◽  
Motor Learning ◽  
Human Genome ◽  
Human Genome Project ◽  
Population Sample ◽  
Genome Project ◽  
Music Training ◽  
Val66met Polymorphism ◽  
Learning And Plasticity

The study compared the prevalence of the Val66Met Brain-derived Neurotrophic Factor single nucleotide polymorphism (rs6265) in a sample of musicians (N = 50) to an ethnically matched general population sample from the 1000 Human Genome Project (N = 424). Met-carriers of the polymorphism (Val/Met and Met/Met genotypes) are typically present in 25–30% of the general population and have associated deficits in motor learning and plasticity. Many studies have assessed the benefits of long-term music training for neuroplasticity and motor learning. This study takes a unique genetic approach investigating if the prevalence of the Val66Met BDNF polymorphism, which negatively affects motor learning, is significantly different in musicians from the general population. Our genotype and allele frequency analyses revealed that the distribution of the Val66Met polymorphism was not significantly different in musicians versus the general population (p = 0.6447 for genotype analysis and p = 0.8513 allele analysis). In the Musician sample (N = 50), the prevalence of the Val/Met genotype was 40% and the prevalence of the Met/Met genotype was 2%. In the 1000 Human Genome Project subset (N = 424), the prevalence of Val/Met was 33.25% and the Met/Met genotype prevalence was 4%. Therefore, musicians do exist with the Val66Met polymorphism and the characteristics of long-term music training may compensate for genetic predisposition to motor learning deficits. Since the polymorphism has significant implications for stroke rehabilitation, future studies may consider the implications of the polymorphism in music-based interventions such as Neurologic Music Therapy.

Brain-derived neurotrophic factor, Val66Met single nucleotide polymorphism is not associated with alcohol dependence

2011 ◽  
Vol 21 (1) ◽  
pp. 53-54 ◽  
Author(s):  
Marc Andre Nicolas Muschler ◽  
Annemarie Heberlein ◽  
Helge Frieling ◽  
Nico Vogel ◽  
Cord-Michael Becker ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Alcohol Dependence ◽  
Neurotrophic Factor ◽  
Brain Derived Neurotrophic Factor ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Impact of a Single Nucleotide Polymorphism in the MDM2 Gene on Neuroblastoma Development and Aggressiveness: Results of a Pilot Study on 239 Patients

2008 ◽  
Vol 14 (11) ◽  
pp. 3248-3253 ◽  
Author(s):  
Sara Cattelani ◽  
Raffaella Defferrari ◽  
Sonia Marsilio ◽  
Rita Bussolari ◽  
Olivia Candini ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Pilot Study ◽  
Nucleotide Polymorphism ◽  
Mdm2 Gene ◽  
Single Nucleotide

scholarly journals The effect of a single nucleotide polymorphism on human α2-antiplasmin activity

Blood ◽  
2007 ◽  
Vol 109 (12) ◽  
pp. 5286-5292 ◽  
Author(s):  
Victoria J. Christiansen ◽  
Kenneth W. Jackson ◽  
Kyung N. Lee ◽  
Patrick A. McKee
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Amino Acid ◽  
Amino Terminus ◽  
Healthy Population ◽  
Plasma Samples ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Polymorphic Forms

Abstract The primary inhibitor of plasmin, α2-antiplasmin (α2AP), is secreted by the liver into plasma with Met as the amino-terminus. During circulation, Met-α2AP is cleaved by antiplasmin-cleaving enzyme (APCE), yielding Asn-α2AP, which is crosslinked into fibrin approximately 13 times faster than Met-α2AP. The Met-α2AP gene codes for either Arg or Trp as the sixth amino acid, with both polymorphic forms found in human plasma samples. We determined the Arg6Trp genotype frequency in a healthy population and its effects on Met-α2AP cleavage and fibrinolysis. Genotype frequencies were RR 62.5%, RW 34.0%, and WW 3.5%. The polymorphism related to the percentage of Met-α2AP in plasma was WW (56.4%), RW (40.6%), and RR (23.6%). WW plasma tended to have shorter lysis times than RR and RW plasmas. APCE cleaved purified Met-α2AP(Arg6) approximately 8-fold faster than Met-α2AP(Trp6), which is reflected in Asn-α2AP/Met-α2AP ratios with time in RR, RW, and WW plasmas. Removal of APCE from plasma abrogated cleavage of Met-α2AP. We conclude that the Arg6Trp polymorphism is functionally significant, as it clearly affects conversion of Met-α2AP to Asn-α2AP, and thereby, the rate of α2AP incorporation into fibrin. Therefore, the Arg6Trp polymorphism may play a significant role in governing the long-term deposition/removal of intravascular fibrin.

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