APOA5
- Known as:
- APOA5
- Catalog number:
- Y214008
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- APOA5
Related genes to: APOA5
- Gene:
- APOA5 NIH gene
- Name:
- apolipoprotein A5
- Previous symbol:
- -
- Synonyms:
- RAP3, APOA-V
- Chromosome:
- 11q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-12-11
- Date modifiied:
- 2016-10-05
Related products to: APOA5
Related articles to: APOA5
- Wilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated transaminase levels, combined with clinical manifestations, copper metabolism indexes, lipid profile analysis, and genetic testing results (pathogenic mutations of and ). The patient was treated using a copper chelating agent to lower copper levels and fibrate drugs to lower lipid levels, which resulted in improvements in his liver function and blood lipid indices. This case serves as a source of reference for the diagnosis and treatment of other similar cases. It not only reveals the potential interaction between copper metabolism disorders and lipid abnormalities, but also highlights the importance of systematic genetic testing to identify comorbid inheritance. - Source: PubMed
Publication date: 2026/03/06
Wang YuemiaoWu DarenSun DandanWang JiaweiWang Xun - Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and caused by mutations in genes involved in chylomicron metabolism. Dietary management includes a very-low-fat diet, restriction of simple carbohydrates and alcohol, supplementation with medium-chain triglycerides, essential fatty acids, and fat-soluble vitamins; however, long-term adherence is often poor and nutritional therapy alone is insufficient. We report two adult Chilean sisters with FCS caused by the homozygous Q97X mutation in the APOA5 gene. Both patients experienced severe hypertriglyceridemia (>5,000 mg/dL) and recurrent episodes of acute pancreatitis. One sister was treated with volanesorsen, an antisense oligonucleotide, receiving a weekly dose of 285 mg, which was repeated every 3 weeks due to thrombocytopenia. When combined with structured nutritional counseling, pharmacological treatment achieved a marked reduction in plasma triglycerides to <250 mg/dL and a substantial improvement in quality of life. The other sister was managed with conventional therapy due to a lack of health insurance coverage for volanesorsen. She presented persistent hypertriglyceridemia and recurrent hospitalizations, underscoring the challenges of access to advanced therapies in limited-resource settings. While volanesorsen offers a promising therapeutic alternative, equitable access remains a critical issue, particularly in health systems of low-to middle-income regions. - Source: PubMed
Publication date: 2026/02/09
Vega JavierTorres BenjamínMaiz AlbertoSantos José L - We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) that were unresponsive to lifestyle modifications. Lipoprotein fractionation revealed increased chylomicrons (CMs, 21%) and very-low-density lipoprotein (35%), consistent with type V hyperlipoproteinemia. Secondary causes, such as diabetes, alcohol intake, and hypothyroidism, were excluded. The post-heparinization lipoprotein lipase (PH-LPL) level was reduced (104 ng/mL), indicating impaired lipolysis. Genetic testing revealed no pathogenic variants in LPL or other major genes related to triglyceride metabolism. A homozygous APOA5 c.553G>T variant was identified. Pemafibrate (0.2 mg/day), a selective PPARα modulator (SPPARMα), was initiated. After 2 months, the blood lipid levels had markedly improved, with the complete disappearance of CMs, and the PH-LPL level had normalized to 173 ng/mL. This case highlights the potential pathogenic role of APOA5 mutations in LPL-related hypertriglyceridemia. Furthermore, it demonstrates the multifaceted therapeutic effects of pemafibrate, suggesting a potential role for SPPARMα therapy in the management of hereditary hypertriglyceridemia. - Source: PubMed
Publication date: 2026/02/04
Miyauchi ShozoUtsunomiya YujiOkamoto MasashiAkesaka KazuyukiOno KeizoHara YasuhikoMiyazaki MasumiNakaguchi HironobuMiyake TerukiFurukawa ShinyaEbisui OsamuHiasa YoichiMatsuura Bunzo - Severe hypertriglyceridemia (fasting triglycerides >500 mg/dL) is an uncommon and heterogeneous condition in children. - Source: PubMed
Publication date: 2026/01/05
Ariza María JoséRioja JoséSeidel Verónica AdrianaTolín-Hernani MarGonzález-Estrada AuroraSalazar-Quero José CarlosMuñiz-Grijalvo OvidioMangas AlipioBenavides-Román María RosarioMora-Sitja MarinaBlasco-Alonso JavierYahyaoui Raquelde Las Heras JavierUnceta-Suárez MaríaJiménez-Navarro Manuel FranciscoOrdóñez-Simón Rosa MaríaEspíldora-Hernández JavierBenítez-Toledo María JoséCoca-Prieto InmaculadaSánchez-Chaparro Miguel Ángel - Variants linked to the risk of ischemic stroke have been discovered through genome-wide association studies (GWASs). These variations frequently have little consequences that lack apparent biological significance. Hence, these findings demonstrate that exome sequencing can be highly relevant to stroke, even though stroke is a complex phenotype with various diseases and risk factors. - Source: PubMed
Publication date: 2026/01/27
Hamadi AbdullahMir RashidAl-Amer Osama MAlasseiri MohammedAlZamzami WaseemAlatawi SaelAlanazi Mohammad AMoawadh Mamdoh SOyouni Atif Abdulwahab AAl Tuwaijri AbeerAlthenayyan SalehMadkhali Hassan AAlserihi Raed