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Inheritance of high and low HDL: mechanisms and management
Andreas Sourlas1, Constantine E Kosmas2
1School of Medicine, University of Crete, Heraklion, Greece.
Insights
Genetic disorders affecting high-density lipoprotein cholesterol (HDL-C) impact cardiovascular disease (CVD) risk. Research is exploring these genetic links and developing novel HDL-C-targeted therapies for CVD prevention and treatment.
Area of Science:
- Cardiovascular Genetics
- Lipid Metabolism
- Atherosclerosis Research
Background:
- Epidemiological studies confirm an inverse relationship between plasma high-density lipoprotein cholesterol (HDL-C) and cardiovascular disease (CVD) incidence.
- Genetic disorders influencing HDL-C levels can confer atheroprotection or predispose individuals to premature atherosclerosis.
- Despite the established link, no pharmacological intervention targeting HDL-C has definitively proven to prevent CVD progression.
Purpose of the Study:
- To review recent findings on the inheritance patterns of genetic disorders associated with varying HDL-C plasma levels.
- To discuss the clinical features of these genetic HDL disorders.
- To explore emerging HDL-C-targeted therapies currently in clinical trials for CVD prevention.
Main Methods:
- Literature review of recent research on genetic disorders of HDL.
- Analysis of studies examining inheritance of high and low HDL-C levels.
- Discussion of clinical manifestations and therapeutic strategies.
Main Results:
- Primary genetic HDL disorders can be linked to longevity or lead to premature CVD, resulting in significant morbidity and mortality.
- Recent research has identified promising therapeutic strategies for patients at risk of CVD.
- Understanding the genetic basis of HDL disorders is crucial for revealing molecular targets for novel drug discovery.
Conclusions:
- Clarifying the mechanisms of inheritance in genetic HDL disorders is a key research goal.
- New therapeutic strategies targeting HDL-C show promise for future CVD management.
- Further research into HDL metabolism and function can lead to novel medications for CVD prevention and treatment.
Purpose Of Review:
The inverse association between plasma high-density lipoprotein cholesterol (HDL-C) concentration and the incidence of cardiovascular disease (CVD) has been unequivocally proven by many epidemiological studies. There are several genetic disorders affecting HDL-C plasma levels, either providing atheroprotection or predisposing to premature atherosclerosis. However, up to date, there has not been any pharmacological intervention modulating HDL-C levels, which has been clearly shown to prevent the progression of CVD. Thus, clarifying the exact underlying mechanisms of inheritance of these genetic disorders that affect HDL is a current goal of the research, as key roles of molecular components of HDL metabolism and function can be revealed and become targets for the discovery of novel medications for the prevention and treatment of CVD.
Recent Findings:
Primary genetic disorders of HDL can be either associated with longevity or, in contrast, may lead to premature CVD, causing high morbidity and mortality to their carriers. A large body of recent research has closely examined the genetic disorders of HDL and new promising therapeutic strategies have been developed, which may be proven beneficial in patients predisposed to CVD in the near future.
Summary:
We have reviewed recent findings on the inheritance of genetic disorders associated with high and low HDL-C plasma levels and we have discussed their clinical features, as well as information about new promising HDL-C-targeted therapies that are under clinical trials.
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