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Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol (1985) 1998 Oct;85(4):1273-8

Date

10/07/1998

Pubmed ID

9760316

DOI

10.1152/jappl.1998.85.4.1273

Scopus ID

2-s2.0-0031694689 (requires institutional sign-in at Scopus site)   52 Citations

Abstract

AMPD1 genotype, relative fiber type composition, training status, and gender were evaluated as contributing factors to the reported variation in AMP deaminase enzyme activity in healthy skeletal muscle. Multifactorial correlative analyses demonstrate that AMPD1 genotype has the greatest effect on enzyme activity. An AMPD1 mutant allele frequency of 13.7 and a 1.7% incidence of enzyme deficiency was found across 175 healthy subjects. Homozygotes for the AMPD1 normal allele have high enzyme activities, and heterozygotes display intermediate activities. When examined according to genotype, other factors were found to affect variability as follows: AMP deaminase activity in homozygotes for the normal allele exhibits a negative correlation with the relative percentage of type I fibers and training status. Conversely, residual AMP deaminase activity in homozygotes for the mutant allele displays a positive correlation with the relative percentage of type I fibers. Opposing correlations in different homozygous AMPD1 genotypes are likely due to relative fiber-type differences in the expression of AMPD1 and AMPD3 isoforms. Gender also contributes to variation in total skeletal muscle AMP deaminase activity, with normal homozygous and heterozygous women showing only 85-88% of the levels observed in genotype-matched men.

Author List

Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL

Author

Donna K. Mahnke Research Scientist I in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

AMP Deaminase
Adult
Body Height
Body Weight
Female
Gene Frequency
Genotype
Heterozygote
Homozygote
Humans
Life Style
Male
Muscle, Skeletal
Reference Values
Regression Analysis
Surveys and Questionnaires