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Association of the ACTN3 R577X polymorphism with power athlete status in Russians.

https://arctichealth.org/en/permalink/ahliterature157238
Source
Eur J Appl Physiol. 2008 Aug;103(6):631-4
Publication Type
Article
Date
Aug-2008
Author
Anastasiya M Druzhevskaya
Ildus I Ahmetov
Irina V Astratenkova
Viktor A Rogozkin
Author Affiliation
Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, 2 Dynamo Avenue, St Petersburg, Russia. a.druzhevskaya@gmail.com
Source
Eur J Appl Physiol. 2008 Aug;103(6):631-4
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Adult
Athletic Performance
Case-Control Studies
Female
Gene Frequency
Homozygote
Humans
Male
Muscle Contraction - genetics
Muscle, Skeletal - physiology
Phenotype
Polymorphism, Genetic
Russia
Abstract
The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in alpha-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P
PubMed ID
18470530 View in PubMed
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Decrement of compound muscle action potential is related to mutation type in myotonia congenita.

https://arctichealth.org/en/permalink/ahliterature186107
Source
Muscle Nerve. 2003 Apr;27(4):449-55
Publication Type
Article
Date
Apr-2003
Author
Eskild Colding-Jørgensen
Morten DunØ
Marianne Schwartz
John Vissing
Author Affiliation
Department of Clinical Neurophysiology, National University Hospital, Rigshospitalet, Copenhagen, Denmark.
Source
Muscle Nerve. 2003 Apr;27(4):449-55
Date
Apr-2003
Language
English
Publication Type
Article
Keywords
Action Potentials - genetics - physiology
Adult
Age Factors
Aged
Chloride Channels - genetics
DNA Mutational Analysis
Denmark
Electric Stimulation
Female
Humans
Male
Middle Aged
Muscle Contraction - genetics - physiology
Muscle Weakness - genetics - physiopathology
Muscle, Skeletal - physiopathology
Mutation - genetics - physiology
Myotonia Congenita - genetics - physiopathology
Pedigree
Sex Factors
Abstract
Decrement of the compound muscle action potential (CMAP) during 10-HZ repetitive nerve stimulation is thought to be an unusual finding in dominant myotonia congenita, and has not previously been reported in patients with the genetically verified disorder. It was the purpose of the present study to elucidate the relation between decrement and CLCN1 mutation type in myotonia congenita. Decrement and genotypes were studied in eight Danish families with myotonia congenita. Six patients with the known dominant mutation P480L had decrements of 30-84%. Patients heterozygous for the R894X mutation had decrements of 20-47%. Three novel CLCN1 mutations (two dominant and one recessive) were found segregating with the Thomsen/Becker phenotypes. In families with the novel dominant mutations M128V and E193K, decrement was absent in all family members tested. In conclusion, CMAP decrement may be pronounced in dominant myotonia congenita, and the presence of decrement is related to mutation type.
PubMed ID
12661046 View in PubMed
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Male preponderance of patients testing positive for malignant hyperthermia susceptibility.

https://arctichealth.org/en/permalink/ahliterature164189
Source
Acta Anaesthesiol Scand. 2007 May;51(5):614-20
Publication Type
Article
Date
May-2007
Author
G. Islander
K. Rydenfelt
E. Ranklev
M. Bodelsson
Author Affiliation
Department of Anaesthesia and Intensive Care, MH Unit, Lund University Hospital, SE-221 85 Lund, Sweden. gunilla.islander@skane.se
Source
Acta Anaesthesiol Scand. 2007 May;51(5):614-20
Date
May-2007
Language
English
Publication Type
Article
Keywords
Caffeine - diagnostic use
Family
Female
Genetic Predisposition to Disease - genetics
Halothane - diagnostic use
Humans
Male
Malignant Hyperthermia - diagnosis - genetics - physiopathology
Muscle Contraction - genetics
Mutation
Registries
Research Design
Sex Factors
Statistics, nonparametric
Sweden
Abstract
Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. The inheritance pattern is regarded as autosomal dominant, which predicts equal proportions of men and women affected. The aim of this study was to investigate whether there were sex differences in the diagnostic outcome of the 1407 patients tested for malignant hyperthermia in Sweden between 1985 and 2005.
Information about sex, diagnosis, IVCT result and kinship was analysed. Comparisons were made between the two sexes. Probands and relatives were analysed separately in order to eliminate bias caused by the type of surgery performed in the two sexes.
Males, more than females, revealed a pathological outcome in IVCT. Amongst male relatives, the fraction of pathological outcome in IVCT was 0.70 [95% confidence interval (CI), 0.66-0.74]; the corresponding value for females was 0.40 (95% CI, 0.36-0.44).
A significant difference was observed in the sex distribution of outcome of IVCT, with significantly more males revealing a pathological IVCT. This indicates the influence of one or several factors related to sex in the outcome of IVCT, for example different expression of calcium handling proteins in the sexes, a complex pattern of inheritance or unknown environmental factors.
Notes
Comment In: Acta Anaesthesiol Scand. 2008 Jan;52(1):164-518173438
PubMed ID
17430325 View in PubMed
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