Current opinion in lipidology最新文献_第3页

Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients. 在遗传性血脂异常中导航不确定意义的变异：如何评估和咨询患者。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-04-01 Epub Date: 2024-12-18 DOI: 10.1097/MOL.0000000000000971

Hannah E Ison, Benjamin Helm, Gabriel Kringlen, Paul Crawford

{"title":"Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients.","authors":"Hannah E Ison, Benjamin Helm, Gabriel Kringlen, Paul Crawford","doi":"10.1097/MOL.0000000000000971","DOIUrl":"10.1097/MOL.0000000000000971","url":null,"abstract":"Purpose of review: Genetic testing has become an integral component of clinical care when an inherited condition is suspected. However, the interpretation of variants identified with this testing can be nuanced. Variants of uncertain significance (VUS) are variants for which there is not enough data currently available to determine if the variant is causal for disease (i.e. pathogenic) or is benign. VUS can exist on a spectrum with some leaning towards suspected pathogenicity and others leaning towards likely benign. Clinician understanding of variant interpretation can improve clinical care by providing more context around how suspicious a VUS is, determining whether additional steps should be taken to further evaluate the variant in question, and ensuring patient understanding of these results.Recent findings: Research on this topic highlights the complexities around VUS interpretation and counseling. VUS are not static: interpretations of pathogenicity change as new information is uncovered.Summary: This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients on these results.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"49-54"},"PeriodicalIF":3.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fibroblast growth factor 21: update on genetics and molecular biology. 成纤维细胞生长因子 21：遗传学和分子生物学的最新进展。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-04-01 Epub Date: 2024-10-23 DOI: 10.1097/MOL.0000000000000960

Daniel R Barros, Robert A Hegele

{"title":"Fibroblast growth factor 21: update on genetics and molecular biology.","authors":"Daniel R Barros, Robert A Hegele","doi":"10.1097/MOL.0000000000000960","DOIUrl":"10.1097/MOL.0000000000000960","url":null,"abstract":"Purpose of review: Since its discovery, most research on fibroblast growth factor 21 (FGF21) has focused on its antihyperglycemia properties. However, attention has recently shifted towards elucidating the ability of FGF21 to lower circulating lipid levels and ameliorate liver inflammation and steatosis. We here discuss the physiology of FGF21 and its role in lipid metabolism, with a focus on genetics, which has up until now not been fully appreciated.Recent findings: New developments have uncovered associations of common small-effect variants of the FGF21 gene, such as the single nucleotide polymorphisms rs2548957 and rs838133, with numerous physiological, biochemical and behavioural phenotypes linked to energy metabolism and liver function. In addition, rare loss-of-function variants of the cellular receptors for FGF21 have been recently associated with severe endocrine and metabolic phenotypes. These associations corroborate the findings from basic studies and preliminary clinical investigations into the therapeutic potential of FGF21 for the treatment of metabolic dysfunction-associated steatotic liver disease (MASLD) and hypertriglyceridemia. Furthermore, recent breakthrough research has begun to dissect mechanisms of a potential FGF21 brain-adipose axis. Such inter-organ communication would be comparable to that seen with other potent metabolic hormones. A deeper understanding of FGF21 could prove to be further beneficial for drug development.Summary: FGF21 is a potent regulator of lipid and energy homeostasis and its physiology is currently at the centre of investigative efforts to develop agents targeting hypertriglyceridemia and MASLD.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"88-95"},"PeriodicalIF":3.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11888835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Leveraging drug-target Mendelian randomization for tailored lipoprotein-lipid lowering. 利用药物靶向孟德尔随机化来降低脂蛋白脂。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-04-01 Epub Date: 2025-02-20 DOI: 10.1097/MOL.0000000000000977

Eloi Gagnon, Benoit J Arsenault

{"title":"Leveraging drug-target Mendelian randomization for tailored lipoprotein-lipid lowering.","authors":"Eloi Gagnon, Benoit J Arsenault","doi":"10.1097/MOL.0000000000000977","DOIUrl":"10.1097/MOL.0000000000000977","url":null,"abstract":"Purpose of review: The study of naturally occurring genetic variation in human populations has laid the foundation for proprotein converts subtilisin/kexin type 9 inhibitors, and more recently new classes of lipid-lowering drugs such as lipoprotein(a) inhibitors and lipoprotein lipase pathway activators. These emerging therapies lower plasma lipoprotein-lipid levels that are not adequately managed by traditional low-density lipoprotein (LDL) cholesterol-lowering medications. By targeting different risk factors, these therapies could help manage the important residual cardiovascular risk of LDL cholesterol medications.Recent findings: We review the latest insights into the pharmacological and genetic modulation of these new therapeutic targets. We highlight that the drugs remarkably recapitulate the lipid effects observed in genetic studies. In addition to lowering lipoprotein-lipid levels, robust genetic evidence support that these drugs may prevent cardiometabolic outcomes.Summary: Emerging lipid-lowering therapies could launch a new era for preventive medicine in which treatments are optimally tailored to patient's lipoprotein-lipid profiles.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"71-77"},"PeriodicalIF":3.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial introduction. 编辑介绍。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-04-01 Epub Date: 2025-03-06 DOI: 10.1097/MOL.0000000000000976

引用次数: 0

Implementation science and genetic testing for familial hypercholesterolemia. 实施科学和家族性高胆固醇血症基因检测。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-04-01 Epub Date: 2024-11-25 DOI: 10.1097/MOL.0000000000000967

Karen Birkenhead, David Sullivan, Gerald F Watts, Mitchell N Sarkies

{"title":"Implementation science and genetic testing for familial hypercholesterolemia.","authors":"Karen Birkenhead, David Sullivan, Gerald F Watts, Mitchell N Sarkies","doi":"10.1097/MOL.0000000000000967","DOIUrl":"10.1097/MOL.0000000000000967","url":null,"abstract":"Purpose of review: Familial hypercholesterolemia is a treatable genetic disorder of cholesterol metabolism. Genetic testing is the most specific method for diagnosing familial hypercholesterolemia, but it remains underutilized. Implementation science aims to bridge the gap between evidence and practice and, thereby, support improved familial hypercholesterolemia care. This review presents the current evidence on the use of implementation science to improve the use of genetic testing for familial hypercholesterolemia.Recent findings: Recent research has focused on developing implementation strategies to improve the use of genetic testing, particularly cascade testing of at-risk blood relatives of known familial hypercholesterolemia cases. Stakeholder informed strategies aimed at improving communication between families and detection of familial hypercholesterolemia in primary care have been developed and implemented. Findings demonstrate implementation science methods can help remove barriers and improve the uptake of cascade genetic testing.Summary: Significant gaps in familial hypercholesterolemia care emphasize the importance of practical and realistic approaches to improve the detection of this preventable cause of premature heart disease, and recent efforts using implementation science have shown some promising results. More implementation science studies are needed that address the considerable gaps in familial hypercholesterolemia care, including the underutilization of genetic testing, so that all individuals receive the best clinical care.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"41-48"},"PeriodicalIF":3.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142726696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The potential of circulating nonesterified fatty acids and sphingolipids in the biological understanding of cognitive decline and dementia. 循环非酯化脂肪酸和鞘脂在认知能力下降和痴呆的生物学理解中的潜力。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-02-01 Epub Date: 2024-12-06 DOI: 10.1097/MOL.0000000000000968

Kristine F Moseholm, Josefine T Meineche, Majken K Jensen

{"title":"The potential of circulating nonesterified fatty acids and sphingolipids in the biological understanding of cognitive decline and dementia.","authors":"Kristine F Moseholm, Josefine T Meineche, Majken K Jensen","doi":"10.1097/MOL.0000000000000968","DOIUrl":"10.1097/MOL.0000000000000968","url":null,"abstract":"Purpose of review: Cognitive decline and late-onset dementia pose significant challenges in aging societies, and many dementia cases could be prevented or delayed through modification of associated risk factors, many of which are tied to cardiovascular and metabolic dysfunction. As individuals age, the blood-brain barrier becomes more permeable, easing the exchange of molecules between the bloodstream and the brain. Consequently, blood-based biological markers (so-called biomarkers) provide a minimally invasive and accessible means of accessing molecular changes associated with aging and neurodegeneration.Recent findings: Circulating free fatty acids, also called nonesterified fatty acids (NEFAs), and sphingolipids are associated with cardiovascular disease, insulin resistance, and diabetes; thus, could be promising candidates as biomarkers for cognitive decline and dementia.Summary: The opportunity to study such minimally invasive biomarkers further opens up potential new avenues for improved understanding of the underlying biology of diseases of the brain.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"27-37"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Atherogenic low-density lipoprotein and cardiovascular risk. 致动脉粥样硬化低密度脂蛋白与心血管风险。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-02-01 Epub Date: 2024-12-06 DOI: 10.1097/MOL.0000000000000963

Javier Hernando-Redondo, Olga Castañer Niño, Montse Fitó

{"title":"Atherogenic low-density lipoprotein and cardiovascular risk.","authors":"Javier Hernando-Redondo, Olga Castañer Niño, Montse Fitó","doi":"10.1097/MOL.0000000000000963","DOIUrl":"10.1097/MOL.0000000000000963","url":null,"abstract":"Purpose of review: Despite reductions in low-density lipoprotein (LDL) cholesterol (LDLc), residual cardiovascular risk remains due to factors beyond lipoprotein levels, such as LDL particle count, size, electronegativity and modifications. Technological advances allow detailed profiling of LDL particles, offering potential biomarkers for diagnosis, prognosis, and treatment of cardiovascular disease (CVD). The aim of this review is to provide an updated overview of the state of knowledge in the field of LDL atherosclerotic role, which is evolving rapidly due to technological advances in biomarker measurement and applications.Recent findings: While small dense LDL has been linked to increased CVD risk, current approaches favor a comprehensive evaluation of all lipoprotein subtypes, as this is a more feasible and standardized method. The atherogenic potential of circulating oxidized LDL (oxLDL) may be the key factor in the onset and progression of atherosclerosis. Thus, elevated oxLDL levels are recognized as a marker of increased CVD risk in both general and high-risk populations, although further research is needed to clarify some conflicting findings. The oxidized LDL receptor 1 (LOX-1) has emerged as a promising target for immunotherapy and innovative drug delivery strategies to modulate atherosclerosis.Summary: A panel of biomarkers related to LDL atherogenicity may help predict future ischemic events. An atheroprotective diet and increased physical activity could improve LDL oxidation. OxLDL has become a target for immunomodulatory antiatherosclerosis therapy and delivering LDL-based nanocarriers holds promise for both imaging and therapeutics.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"8-13"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Preeclampsia and fetal growth restriction: does novel proteomics reveal immunological possible candidate biomarkers? 子痫前期和胎儿生长受限：新的蛋白质组学是否揭示了可能的免疫候选生物标志物？

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-02-01 Epub Date: 2024-11-28 DOI: 10.1097/MOL.0000000000000965

Marie Winther, Morten Hanefeld Dziegiel, Steffen Ullitz Thorsen

{"title":"Preeclampsia and fetal growth restriction: does novel proteomics reveal immunological possible candidate biomarkers?","authors":"Marie Winther, Morten Hanefeld Dziegiel, Steffen Ullitz Thorsen","doi":"10.1097/MOL.0000000000000965","DOIUrl":"10.1097/MOL.0000000000000965","url":null,"abstract":"Purpose of review: The aim of this review is to explore a possible link between immunological candidate proteins, identified through modern proteomic techniques, and preeclampsia (PE) and fetal growth restriction (FGR).Recent findings: Proteomics has become a promising tool in the search for disease pathways, drug targets, and biomarkers. PE and FGR are adverse pregnancy complications with supposed immunological involvement in their pathogenesis, but no circulating immunological biomarkers are currently established for diagnosis and risk stratification. Several proteomic studies have aimed to identify PE and FGR biomarkers - often with varying results across studies. However, proteomics has revealed altered expression of human leukocyte antigen-I in PE cases, which is supported in Genome-wide association study (GWAS) studies. Proteomic results support the heterogeneous nature of PE by identification of molecular subgroups - including subgroups characterized by immune-related proteins e.g. CXCL10. No specific immunological markers are found on FGR, but differences in overall plasma proteomic signature have been suggested.Summary: Proteomics certainly holds great potential. The immunological component in PE and FGR are still unclarified, but improvements in proteomic technologies may provide both definition of disease subgroups and subsequent discovery of biomarkers and targeted analysis within each subgroup.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"21-26"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial introductions. 编辑介绍。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-02-01 Epub Date: 2025-01-03 DOI: 10.1097/MOL.0000000000000969

引用次数: 0

Recent advances in applying metabolomics to uncover dietary impact on cardiometabolic health. 应用代谢组学揭示饮食对心脏代谢健康影响的最新进展。

IF 3.8 3区医学

Current opinion in lipidology Pub Date : 2025-02-01 Epub Date: 2024-11-21 DOI: 10.1097/MOL.0000000000000964

Naixin Zhang, Bjørn Lundbergh, Marta Guasch-Ferré

{"title":"Recent advances in applying metabolomics to uncover dietary impact on cardiometabolic health.","authors":"Naixin Zhang, Bjørn Lundbergh, Marta Guasch-Ferré","doi":"10.1097/MOL.0000000000000964","DOIUrl":"10.1097/MOL.0000000000000964","url":null,"abstract":"Purpose of review: Cardiometabolic diseases are a major global health concern, with diet playing a crucial role in their prevention and management. Recent advancements in the identification of metabolic signatures related to dietary patterns offer a more objective assessment of individualized dietary exposure and provide deeper insights into diet-disease associations.Recent findings: Recent studies have shown that distinct metabolic signatures are associated with the adherence to various dietary patterns. These signatures show even stronger associations with cardiometabolic disease incidence, independent of traditional risk factors and self-reported adherence to such dietary patterns. Emerging dietary approaches, such as sustainable diets, health outcome-focused diets, and population data-driven dietary patterns, also hold promise for improving cardiometabolic health. Additionally, metabolic signatures could offer insights into diet-disease associations in underrepresented populations, addressing genetic and lifestyle differences.Summary: Application of metabolomics provides a more precise understanding of how dietary patterns influence cardiometabolic health. Although the number of studies remains limited, and current evidence is inconsistent, the approach has significant potential for improving clinical and public health strategies. Future research should prioritize prospective studies and address population- and outcome-specific dietary needs to enable targeted interventions that optimize cardiometabolic health.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"1-7"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0