Biomedical subjects

Mark Spence

Publications and source records attributed to Mark Spence.

3 recordsLinked to original sources

PubMed2006

Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

BACKGROUND: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Delta7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. METHODS: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Delta7aa region of the MEF2A gene was investigated based on amplicon size. RESULTS: The Delta7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. CONCLUSION: The Delta7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group.

Age Factors↗

PubMed2005

Family-based association studies of lipid gene polymorphisms in coronary artery disease.

Dysfunction of lipid-metabolizing proteins is implicated in the pathogenesis of coronary artery disease. Single nucleotide polymorphisms in genes that encode sterol regulatory binding protein-1a, adenosine triphosphate binding cassette-A1, hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein were assessed as potential markers of disease susceptibility in a family-based study of 1,012 patients from 386 families. Association between single nucleotide polymorphisms and coronary artery disease was tested by the combined transmission disequilibrium test/sib transmission disequilibrium test and pedigree disequilibrium test. After Bonferroni's correction, the pedigree disequilibrium test demonstrated significant excess transmission (p <0.0083) to affected patients of the hepatic lipase -514 T allele, which suggests that this may constitute a novel disease-susceptibility locus.

Adult↗

PubMed2002

Primary (isolated) meningococcal pericarditis.

A 19-year-old man was admitted with a history and examination findings of probable bacterial pericarditis. Blood cultures produced Neisseria meningitidis Group C, sensitive to penicillin. The patient was initially treated with intravenous benzylpenicillin. Echocardiogram demonstrated the development of a pericardial effusion which was tapped, and benzylpenicillin was instilled into the pericardial space. Because of failure of clinical resolution, cefotaxime was substituted for benzylpenicillin. Rapid clinical improvement then ensued. Repeat echocardiogram showed evidence of neither reaccumulation nor constrictive pericarditis. Primary (isolated) meningococcal pericarditis is a recognized though rare manifestation of meningococcal disease. It is most common in young adults and is associated with a good prognosis.

Adult↗