B Hambly

Publications (2)11.43 Total impact

• Article: Elite endurance athletes and the ACE I allele--the role of genes in athletic performance.

  G Gayagay, B Yu, B Hambly, T Boston, A Hahn, D S Celermajer, R J Trent
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  ABSTRACT: Genetic markers that might contribute to the making of an elite athlete have not been identified. Potential candidate genes might be found in the renin-angiotensin pathway, which plays a key role in the regulation of both cardiac and vascular physiology. In this study, DNA polymorphisms derived from the angiotensin converting enzyme (ACE), the angiotensin type 1 receptor (AT1) and the angiotensin type 2 receptor (AT2) were studied in 64 Australian national rowers. Compared with a normal population, the rowers had an excess of the ACE I allele (P<0.02) and the ACE II genotype (P=0.03). The ACE I allele is a genetic marker that might be associated with athletic excellence. It is proposed that the underlying mechanism relates to a healthier cardiovascular system.
  Human Genetics 08/1998; 103(1):48-50. · 5.07 Impact Factor
• Source

  Available from: bmj.com

  Article: Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

  B Yu, J A French, L Carrier, R W Jeremy, D R McTaggart, M R Nicholson, B Hambly, C Semsarian, D R Richmond, K Schwartz, R J Trent
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  ABSTRACT: DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both dominant negative and haploinsufficiency models have been proposed to explain the molecular changes in FHC. This study describes two Australian families with FHC caused by different mutations in MYBPC3. The first produces a de novo Asn755Lys change in a cardiac specific domain of MYBPC3. The second is a Gln969X nonsense mutation which results in a truncated protein. Neither mutation has previously been found in the MYBPC3 gene. The consequences of DNA changes on the function of cardiac myosin binding protein C are discussed in relation to current molecular models for this disorder.
  Journal of Medical Genetics 04/1998; 35(3):205-10. · 6.36 Impact Factor