Ask about this productRelated genes to: PNPLA8 antibody
- Gene:
- PNPLA8 NIH gene
- Name:
- patatin like phospholipase domain containing 8
- Previous symbol:
- -
- Synonyms:
- IPLA2G, IPLA2-2, iPLA2gamma
- Chromosome:
- 7q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-06-12
- Date modifiied:
- 2018-07-17
Related products to: PNPLA8 antibody
Related articles to: PNPLA8 antibody
- Retinoid signaling is implicated in regulating membrane-bound polyunsaturated fatty acids (PUFAs), which serve as substrates for oxylipin biosynthesis. Dysregulated vitamin A status and altered oxylipin profiles have both been associated with the development of metabolic diseases. However, whether early-life vitamin A deficiency (VAD) causally influences oxylipin metabolism and liver health remains unclear. C57BL/6J mouse pups were exposed to either a vitamin A-deficient (VD) or vitamin A-replete (VR) AIN-93G-based diet during the fetal and suckling periods, and they weremaintained on the same diet from weaning (3 weeks of age) to 9 weeks of age. Oxylipin composition in plasma, liver and cerebral tissues was analyzed by liquid chromatography-mass spectrometry. Hepatic and cerebral expressions of genes involved in inflammation, phospholipid and PUFA catabolism, and oxylipin synthesis were analyzed using RT-qPCR. Dietary deprivation induced severe VAD, which significantly altered 21 oxylipins in the liver and 34 oxylipins in the cerebrum, but did not affect the plasma oxylipin profile. In the liver, all altered oxylipins were elevated by VAD, the majority being ω-6-derived species with pro-inflammatory properties. In contrast, 27 altered oxylipins were lower in the VD cerebrum, including more ω-3-derived species. Multivariate analysis identified 11,12-EpETrE, 8,9-EpETrE, and 20-HETE as key hepatic oxylipins distinguishing VAD. VAD also altered hepatic expression of genes involved in membrane phospholipid remodeling (, , ), and oxylipin metabolism (, ), and it upregulated inflammatory signaling in the liver only, while fibrosis markers (, ) remained unchanged. These findings demonstrate that early-life VAD is associated with tissue-specific alterations in oxylipin metabolism and hepatic inflammatory responses. - Source: PubMed
Publication date: 2026/06/19
Arballo JosephYang JunEngle-Stone ReinaZhaoZhao KellyTang MinghuaJi Peng - Numerous studies have reported that dysregulation of fatty acid metabolic pathways is associated with the pathogenesis of vitiligo, in which arachidonic acid metabolism (AAM) plays an important role. However, the molecular mechanisms of AAM in the pathogenesis of vitiligo have not been clarified. Therefore, we aimed to identify the biomarkers and molecular mechanisms associated with AAM in vitiligo using bioinformatics methods. - Source: PubMed
Publication date: 2025/02/26
Li XiaoqingYang LiZhu LongfeiSun JingyingXu CuixiangSun Lijun - Metabolic cardiomyopathy, encompassing diabetic and obese cardiomyopathy, is an escalating global health concern, driven by the rising prevalence of metabolic disorders such as insulin resistance, type 1 and type 2 diabetes, and obesity. These conditions induce structural and functional alterations in the heart, including left ventricular dysfunction, fibrosis, and ultimately heart failure, particularly in the presence of coronary artery disease or hypertension. Autophagy, a critical cellular process for maintaining cardiac homeostasis, is frequently disrupted in metabolic cardiomyopathy. This review explores the role of autophagy in the pathogenesis of high-fat diet (HFD) and streptozotocin (STZ)-induced metabolic cardiomyopathy, focusing on non-selective and selective autophagy pathways, including mitophagy, ER-phagy, and ferritinophagy. Key proteins and genes such as PINK1, Parkin, ULK1, AMPK, mTOR, ATG7, ATG5, Beclin-1, and miR-34a are central to the regulation of autophagy in metabolic cardiomyopathy. Dysregulated autophagic flux impairs mitochondrial function, promotes oxidative stress, and drives fibrosis in the heart. Additionally, selective autophagy processes such as lipophagy, regulated by PNPLA8, and ferritinophagy, modulated by NCOA4, play pivotal roles in lipid metabolism and iron homeostasis. Emerging therapeutic strategies targeting autophagy, including plant extracts (e.g., curcumin, dihydromyricetin), endogenous compounds (e.g., sirtuin 3, LC3), and lipid/glucose-lowering drugs, offer promising avenues for mitigating the effects of metabolic cardiomyopathy. Despite recent advances, the precise mechanisms underlying autophagy in this context remain poorly understood. A deeper understanding of autophagy's regulatory networks, particularly involving these critical genes and proteins, may lead to novel therapeutic approaches for treating metabolic cardiomyopathy. - Source: PubMed
Publication date: 2025/02/15
Zhou RongZhang ZutongLi XinjieDuan QinchunMiao YuanlinZhang TingtingWang MofeiLi JialiZhang WeiWang LiyangJones Odell DXu MengmengLiu YingliXu Xuehong - PNPLA8 is a gene that causes an autosomal recessive mitochondrial disease characterised by microcephaly and intractable epilepsy in infants and cerebellar ataxia and limb weakness in adults. Herein, we report the clinical, muscle pathology, and brain imaging features of an adult patient with new variants of PNPLA8. - Source: PubMed
Publication date: 2024/12/16
Chen BinZhang CuipingYuan YunWang ZhanCui TaoDong GehongPan HuaZhang ZaiqiangLi Wei - Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing. Here we report analyses of rare protein-coding variants in 106,973 women from the UK Biobank study, implicating genes with effects around five times larger than previously found for common variants (ETAA1, ZNF518A, PNPLA8, PALB2 and SAMHD1). The SAMHD1 association reinforces the link between ovarian ageing and cancer susceptibility, with damaging germline variants being associated with extended reproductive lifespan and increased all-cause cancer risk in both men and women. Protein-truncating variants in ZNF518A are associated with shorter reproductive lifespan-that is, earlier age at menopause (by 5.61 years) and later age at menarche (by 0.56 years). Finally, using 8,089 sequenced trios from the 100,000 Genomes Project (100kGP), we observe that common genetic variants associated with earlier ovarian ageing associate with an increased rate of maternally derived de novo mutations. Although we were unable to replicate the finding in independent samples from the deCODE study, it is consistent with the expected role of DNA damage response genes in maintaining the genetic integrity of germ cells. This study provides evidence of genetic links between age of menopause and cancer risk. - Source: PubMed
Publication date: 2024/09/11
Stankovic StasaShekari SalehHuang Qin QinGardner Eugene JIvarsdottir Erna VOwens Nick D LMavaddat NasimAzad AjunaHawkes GarethKentistou Katherine ABeaumont Robin NDay Felix RZhao YajieJonsson HakonRafnar ThorunnTragante ViniciusSveinbjornsson GardarOddsson AsmundurStyrkarsdottir UnnurGudmundsson JuliusStacey Simon NGudbjartsson Daniel F Kennedy KitaleWood Andrew RWeedon Michael NOng Ken KWright Caroline FHoffmann Eva RSulem PatrickHurles Matthew ERuth Katherine SMartin Hilary CStefansson KariPerry John R BMurray Anna