Ask about this productRelated genes to: PNPLA8 Blocking Peptide
- 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 Blocking Peptide
Related articles to: PNPLA8 Blocking Peptide
- 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 - Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood. Here, we newly identified 14 individuals from 12 unrelated families with biallelic ultra-rare variants in PNPLA8 presenting with a wide phenotypic spectrum of clinical features. Analysis of the clinical features of current and previously reported individuals (25 affected individuals across 20 families) showed that PNPLA8-related neurological diseases manifest as a continuum ranging from variable developmental and/or degenerative epileptic-dyskinetic encephalopathy to childhood-onset neurodegeneration. We found that complete loss of PNPLA8 was associated with the more profound end of the spectrum, with congenital microcephaly. Using cerebral organoids generated from human induced pluripotent stem cells, we found that loss of PNPLA8 led to developmental defects by reducing the number of basal radial glial cells and upper-layer neurons. Spatial transcriptomics revealed that loss of PNPLA8 altered the fate specification of apical radial glial cells, as reflected by the enrichment of gene sets related to the cell cycle, basal radial glial cells and neural differentiation. Neural progenitor cells lacking PNPLA8 showed a reduced amount of lysophosphatidic acid, lysophosphatidylethanolamine and phosphatidic acid. The reduced number of basal radial glial cells in patient-derived cerebral organoids was rescued, in part, by the addition of lysophosphatidic acid. Our data suggest that PNPLA8 is crucial to meet phospholipid synthetic needs and to produce abundant basal radial glial cells in human brain development. - Source: PubMed
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