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HPMR

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patatin like phospholipase domain containing 2 OKDB#: 5051
 Symbols: PNPLA2 Species: human
 Synonyms: ATGL, TTS2, PEDF-R, FP17548, TTS-2.2, iPLA2zeta, 1110001C14Rik  Locus: 11p15.5 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment NCBI Summary: This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
General function Receptor, Enzyme
Comment
Cellular localization Cytoplasmic, Plasma membrane
Comment Serum pigment epithelium-derived factor is elevated in women with polycystic ovary syndrome and correlates with insulin resistance. Yang S et al. (2011) Serum pigment epithelium-derived factor (PEDF) is highly expressed in adipose tissue and plays an important role in insulin resistance (IR). However, there are no data on serum PEDF levels and their relationship with IR in polycystic ovary syndrome (PCOS) women. To quantitate serum PEDF levels and examine their relationship with IR in women with PCOS. Ninety-six PCOS women and 63 healthy age-matched controls were recruited. Ninety-six PCOS women and 20 controls underwent hyperinsulinemic-euglycemic clamp to assess their insulin sensitivity, which was expressed as M value. IR was also estimated by homeostasis model assessment 2 (HOMA2-IR). The study was performed at a clinical research center. PCOS women had lower M value and higher HOMA2-IR as compared with controls. Serum PEDF levels were much higher in PCOS women than in controls (5.45 ± 1.85 vs. 3.97 ± 0.98 μg/ml, P < 0.01). Spearman correlation analysis showed that in PCOS women, PEDF positively correlated with body mass index, waist circumference, HOMA2-IR, triglycerides, total cholesterol, low-density lipoprotein cholesterol, and systolic blood pressure and negatively correlated with M value and high-density lipoprotein cholesterol. Multiple linear regression analysis revealed that in PCOS women, after adjustment for body mass index, systolic blood pressure, and serum lipids (triglycerides, total cholesterol, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol), PEDF was still associated with M value or HOMA2-IR. The serum PEDF level is elevated in women with PCOS and is associated with IR. PEDF may play a role in the pathogenesis of IR in PCOS.//////////////////
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Granulosa
Comment Pigment epithelium-derived factor (PEDF) exerts antioxidative effects in?granulosa cells. Bar-Joseph H 2014 et al. OBJECTIVE To determine whether supplementing granulosa cells cultures with pigment epithelium-derived factor (PEDF) can protect them from oxidative stress. DESIGN We used either granulosa cell line or human primary granulosa cell culture from women undergoing in?vitro fertilization (IVF) treatments. SETTING University research facilities. ANIMAL(S) Imprinting control region female mice. INTERVENTION(S) Recombinant PEDF (rPEDF) was added to cultures of either primary granulosa cell culture or granulosa cell line in the present or absence of H2O2 triggering. MAIN OUTCOME MEASURE(S) We followed cell viability with the use of methylthiazolyl tetrazolium assay and tracked PEDF mechanism of action with the use of Western blot analysis, measuring the level of SOD-1 and GPX-1 mRNA, protein level of BAX, and phosphorylation of AKT. RESULT(S) We found that granulosa cell viability and the level of PEDF mRNA were both significantly reduced, in a dose-dependent manner, after exposure to H2O2. The rate of H2O2-induced apoptosis was significantly attenuated in granulosa cells treated with rPEDF. We showed that granulosa cells, of both humans and rodents, express the PEDF receptor, PNPLA2; once stimulated by rPEDF, the cells exhibited phosphorylation of AKT. Finally, we showed that PEDF exerts its antioxidative activity through the AKT signaling pathway. CONCLUSION(S) This study demonstrates that PEDF represents a novel intrinsic antioxidant of granulosa cells. /////////////////////////
Follicle stages
Comment
Phenotypes PCO (polycystic ovarian syndrome)
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 5, 2014, 11:13 a.m. by: hsueh   email:
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last update: Jan. 15, 2016, 2:59 p.m. by: hsueh    email:



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