ACTN3 R577X genotypes associate with Class II and deepbite malocclusions.

ABSTRACT:

Introduction

α-Actinins are myofibril anchor proteins that influence the contractile properties of skeletal muscles. ACTN2 is expressed in slow type I and fast type II fibers, whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (ie, changing 577RR to 577XX, the R577X polymorphism) results in the absence of α-actinin-3 in about 18% of Europeans, diminishes fast contractile ability, enhances endurance performance, and reduces bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in the masseter muscle of orthognathic surgery patients to determine the genotype associations with malocclusion.

Methods

Clinical information, masseter muscle biopsies, and saliva samples were obtained from 60 subjects. Genoty

SUBMITTER: Zebrick B 

PROVIDER: S-EPMC4254725 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature