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[Progress in biochemical and genetic examinations in clinical laboratory of cardiovascular diseases]
T Murakami1, T Ozaki, K Iizuka
1Department of Laboratory Medicine, Hokkaido University School of Medicine, Sapporo.
Insights
Biochemical and genetic testing aid cardiovascular disease diagnosis and understanding. Advances in DNA analysis and specimen handling enable convenient genetic examinations for conditions like hypertension and obesity.
Area of Science:
- Cardiovascular Medicine
- Clinical Diagnostics
- Human Genetics
Context:
- Cardiovascular emergencies are primarily diagnosed using physiological examinations.
- Biochemical and genetic testing offer complementary diagnostic and fundamental insights into cardiovascular diseases.
- Recent advancements include biochemical markers (troponin T, fatty acid-binding protein, LDL-cholesterol) and genetic analyses (mtDNA, obesity genes, SNPs).
Purpose:
- To highlight recent progress in biochemical and genetic diagnostic methods for cardiovascular diseases.
- To emphasize the availability of a convenient system for biological specimen handling and DNA purification.
- To discuss the potential diagnostic implications of specific genetic variations, such as the GNB3 C825T polymorphism.
Summary:
- Progress in biochemical assays (troponin T, heart-type fatty acid-binding protein, LDL-cholesterol) aids cardiovascular disease diagnosis.
- Genetic testing, including mitochondrial DNA, obesity-related genes, and single nucleotide polymorphisms (SNPs), enhances disease understanding.
- A novel human mutation in the G-protein beta 3 subunit (GNB3 C825T) is linked to essential hypertension and obesity, suggesting a gain-of-function abnormality.
Impact:
- Improved diagnostic accuracy and speed for cardiovascular emergencies and chronic conditions.
- Facilitation of fundamental understanding of cardiovascular disease mechanisms through genetic insights.
- Enables convenient and less invasive genetic testing, supporting personalized medicine approaches for hypertension and obesity.
Abstract:
For diagnosing cardiovascular emergencies, cardiologists mainly rely on physiological examinations. Biochemical laboratory examinations can facilitate emergency diagnosis and genetic diagnosis can facilitate a fundamental understanding of cardiovascular diseases. Recent progress in biochemical examinations for cardiovascular diseases includes measurement of troponin T, heart type fatty acid-binding protein, and LDL-cholesterol. Recent progress in genetic examinations includes analysis of mitochondrial DNA, obesity-related genes and single nucleotide polymorphisms. A safe and convenient system of collecting, transporting, and storing blood and other biological specimens, and the subsequent purification of genomic DNA from the stored specimens is available. Therefore, busy doctors and staff of clinical laboratory can plan subsequent DNA examinations without causing concern and pain. A recently reported human mutation of heterotrimeric G protein beta 3 subunit produces a gain-of-function G protein signaling abnormality. A common polymorphic base substitution, C825T, in the GNB3 gene is associated with an aberrantly spliced transcript lacking 123 nucleotides. A significant association of the T allele with essential hypertension or obesity has been suggested.
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