China 
Africa 
Explore chapters and articles related to this topic
Environmental toxicants on Leydig cell function
Published in C. Yan Cheng, Spermatogenesis, 2018
Leping Ye, Xiaoheng Li, Xiaomin Chen, Qingquan Lian, Ren-Shan Ge
No clear mutation of human SRD5A1 has been found to be associated with human diseases. The human SRD5A2 mutation is associated with male pseudohermaphroditism.46 Human SRD5A3 encodes a protein that not only catalyzes testosterone into dihydrotestosterone but also converts polyprenol to dolichol.41 The human SRD5A3 mutation causes a congenital glycosylation disorder but does not affect reproduction.44
Fungal Lipids
Published in Rajendra Prasad, Mahmoud A. Ghannoum, Lipids of Pathogenic Fungi, 2017
Polyprenol-containing glycosides have been implicated in sugar transport across membranes of yeasts and filamentous fungi, e.g., A. fumigatus.112 They have also been implicated in glycoprotein synthesis in Neurospora crassa113 and in Trichoderma reesei, where mannosylphosphoryl dolichol was identified as an intermediate.114 The involvement of polyprenol glycosides in transfer of sugars, acetylglucosamine and oligosaccharides has been discussed by Brennan.9
Increasing the Sensitivity of Adipocytes and Skeletal Muscle Cells to Insulin
Published in Christophe Wiart, Medicinal Plants in Asia for Metabolic Syndrome, 2017
Chloroform extract of leaves of Coccinia grandis (L.) Voigt. given orally to hamsters on high-fat diet at a dose of 250 mg/kg/day for 7 days reduced plasma triglycerides and cholesterol by about 30%, as well as high-density lipoprotein–cholesterol and free fatty acids.72 From this extract was isolated the long chain isoprenoid alcohol polyprenol that reduced at a dose of 50 mg/kg triglycerides and cholesterol by 42% and 25%, respectively, and free fatty acid by 9%, whereby high-density lipoprotein–cholesterol was unchanged.72 Ethanol extract of roots at a concentration of 500 μg/mL reduced lipid accumulation in differentiating 3T3-L1 adipocytes in vitro by about 45%.73 This extract inhibited the expression of peroxisome proliferator-activated receptor-γ and CCAAT/enhancer-binding protein-α in 3T3-L1 adipocytes as well as glucose transporter-4 and adiponectin.73 Hexane fraction from this extract inhibited the expression of peroxisome proliferator-activated receptor-γ and CCAAT/enhancer-binding protein-α in 3T3-L1 adipocytes as well as fatty acid-binding protein, lipoprotein lipase, and induced acetyl-CoA carboxylase-1, pyruvate dehydrogenase kinase-4, and adiponectin receptor-1.73 Peroxisome proliferator-activated receptor-γ promotes lipid storage by increasing the expression of fatty acid-binding protein.74
Optimized self-microemulsifying drug delivery system improves the oral bioavailability and brain delivery of coenzyme Q10
Published in Drug Delivery, 2022
Thapa Chhitij, Jo-Eun Seo, Taekwang Keum, Gyubin Noh, Santosh Bashyal, Shrawani Lamichhane, Jung Hwan Kim, Jae Heon Lee, Jee Hun Park, Jaewoong Choi, Se Hyun Song, Sangkil Lee
The lipid-soluble antioxidant coenzyme Q (CoQ), also referred to as ubiquinone or 2,3-dimethoxy-5-methyl-6-polyprenyl-1,4-benzoquinone, is produced in animals (Laredj et al., 2014; Hernandez-Camacho et al., 2018; Sweed et al., 2021). It is composed of a benzoquinone ring equipped with redox-active sites, and a long polyisoprenoid lipid chain that is capable of placing the molecule in the mid-plane of a membrane bilayer (Diaz-Casado et al., 2019). Depending on the species, the polyisoprenoid lipid chain has between six and ten subunits. Six subunits can be found in Saccharomyces cerevisiae (CoQ6), seven subunits can be found in Crucianella Maritima (CoQ7), eight subunits can be found in Escherichia coli (CoQ8), nine and ten subunits can be found in rodents (CoQ9 and CoQ10), while ten subunits can be found in humans (CoQ10) (Hernandez-Camacho et al., 2018).
COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
Published in Renal Failure, 2021
Min Li, Zhihui Yue, Hongrong Lin, Haiyan Wang, Huamu Chen, Liangzhong Sun
The pathogenesis of CoQ10 deficiency has not been fully understood. Mutation of pathogenic genes eventually leads to a decrease in CoQ synthesis, affecting energy metabolism and bio-oxidation of cells, insufficient ATP production, and decreased antioxidant capacity [1–3]. COQ2 is located at 4q21 and has 7 exons. The encoded protein is parahydroxybenzoate polyprenyl transferase, which catalyzes the prenylation of parahydroxybenzoate with a polyprenyl group [7,12]. Human COQ2 protein contains nine transmembrane domains, a cytoplasmic domain, and a non-cytoplasmic domain. The activity of the enzyme is mainly in the transmembrane domain and the non-cytoplasmic domain [13].The relationship between COQ2 genotype and phenotypesis not very clear yet. Through the construction of yeast expression vector, Quinzii et al. [13] had found that there was a correlation between different levels of residual CoQ and the severity of clinical manifestations (such as encephalopathy). However, the relationship between nephropathy and its severity and CoQ production is not clear and maybe more complicated [13–15]. The mutant sites of COQ2 related to nephrology were inconsistent, and mainly located within the I to the IV transmembrane domains in previous studies [14]. In the present study, two of the mutant sites were located within the VI to the VIII transmembrane domains. Therefore, the two mutations maybe impact the transmembrane function of COQ2.
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)
Published in Ophthalmic Genetics, 2018
Congenital disorders of glycosylation (CDG syndromes) are a family of multisystem disorders due to abnormal protein and lipid glycosylation (1). Over 100 types have been described to date from variants in different genes. Clinical features and severity vary and can include ocular involvement, but the most recurrent finding is neurological impairment. Biallelic variants in the gene steroid 5α-reductase type 3 (SRD5A3), responsible for the conversion of polyprenol to dolichol, cause SRD5A3-CDG, formally known as Type Iq (2,3). Variants in the gene result in impaired protein N-glycosylation, C-mannosylation, mannose-linked glycan synthesis, and glycophospholipid anchor synthesis. SRD5A3-CDG was first described in two unrelated Baluchi families with iris and chorioretinal colobomas, optic atrophy, atopic dermatitis, cerebellar hypoplasia, and developmental disability (2). Both families harbored the same homozygous SRD5A3 deletion (p.Gln96delinsX) (3). The purpose of this report is to highlight the presentation of a Baluchi girl with early-onset retinal dystrophy, chronic dermatitis, and developmental disability who was found to have undiagnosed SRD5A3-CDG. She was homozygous for the SRD5A3 deletion p.Gln96delinsX but did not have ocular coloboma, which demonstrates that ocular coloboma is not an essential finding in children homozygous for this specific deletion.