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Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia

S S Kang1, P W Wong

  • 1Department of Pediatrics, Rush Medical College and Rush-Presbyterian St. Luke's Medical Center, Chicago, IL 60612, USA.

Atherosclerosis
|January 26, 1996
PubMed

Insights

Assessing vascular disease risk requires demonstrating overt hyperhomocyst(e)inemia. Identifying genetic defects is crucial alongside plasma homocyst(e)ine levels for accurate risk evaluation.

Area of Science:

  • Biochemistry
  • Genetics
  • Cardiovascular Medicine

Background:

  • Hyperhomocysteinemia is linked to vascular disease.
  • Genetic defects can cause persistent hyperhomocysteinemia.
  • Nongenetic factors can influence hyperhomocysteinemia expression.

Purpose of the Study:

  • To evaluate the risk of vascular disease associated with hyperhomocysteinemia.
  • To emphasize the importance of identifying genetic defects in hyperhomocysteinemia assessment.
  • To explore methods for evaluating hyperhomocysteinemia in the context of vascular disease risk.

Main Methods:

  • Demonstrating overt hyperhomocysteinemia.
  • Investigating genetic defects (e.g., cystathionine synthase deficiency, methylenetetrahydrofolate reductase).
  • Utilizing post-methionine homocyst(e)ine determination when genetic defects are not found.

Main Results:

  • Clinical vascular disease in nonhomocystinuric subjects requires prolonged hyperhomocysteinemia, often linked to genetic defects.
  • Plasma homocyst(e)ine concentration alone may be insufficient due to nongenetic factor interference.
  • Genetic analysis is as vital as plasma homocyst(e)ine measurement for risk assessment.

Conclusions:

  • Accurate assessment of hyperhomocyst(e)inemia-associated vascular disease risk necessitates identifying underlying genetic defects.
  • Post-methionine homocyst(e)ine levels can identify genetic susceptibility when environmental factors are controlled.
  • A combined approach of genetic screening and biochemical analysis is recommended for comprehensive risk evaluation.

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