China
Africa
Explore chapters and articles related to this topic
Mitochondrial DNA Mutations and Mitochondrial Diseases
Published in Sara C. Zapico, Mechanisms Linking Aging, Diseases and Biological Age Estimation, 2017
After the sequencing of pancreatic cancer cell lines and ductal adenocarcinoma xenografts, several homoplasmic mutations were found: rRNA genes, NADH dehydrogenase genes coding for complex I proteins (mtND1, mtND2, mtND3, mtND4, mtND4L and mtND5). Mutations were also found in complex III, mtCytB gene, complex IV mtCOX1, mtCOX2, and mtCOX3 genes and complex V mtATP6 and mtATP8 genes and the D-loop regulatory region (Jones et al. 2001).
Mitochondrial dysfunction and mitochondrion-targeted therapeutics in liver diseases
Published in Journal of Drug Targeting, 2021
Li Xiang, Yaru Shao, Yuping Chen
OS and lipid peroxidation in mitochondria have been seen to be accompanied by the pathological processes of liver diseases, especially of non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) [19,20]. The contribution of dysfunctional mitochondria to excessive mtROS and steatohepatitis has also been recapitulated in mice fed with a choline-deficient diet [21]. The notable features of chronic hepatitis B and C are mitochondrial damage and OS [22], and the drug-excited mtROS are common drug-induced hepatotoxicity [23]. Lately, Pirola et al. examined the sequences of mitochondrially encoded cytochrome B (MT-CYB) and other mtDNA damages in 252 NAFLD/NASH patient livers and found that compared to simple steatosis, NASH livers were not only higher in the level of MT-CYB variance and mtDNA damage but also held more DNA oxidative adducts (8-OHdG) and lipid peroxidation radicals (4-HNE). Furthermore, hepatic levels of DNA oxidative adducts and lipid peroxyl radicals were seen to nicely associate with NAFLD severity [24]. Interestingly, palmitic acid was discovered to promote Tyr353 phosphorylation of Inositol 1,4,5-trisphosphate receptor type 1(IP3R1) at the mitochondria-associated ER membranes via activating Src kinase, propelling Ca2+ transfer from ER to mitochondria and inducing mitochondrial Ca2+ overload, mtROS and other dysfunctions to cause hepatocyte apoptosis [25].
Mapping mRNA Expression of Glaucoma Genes in the Healthy Mouse Eye
Published in Current Eye Research, 2019
Wouter H.G. Hubens, Esmee M. Breddels, Youssef Walid, Wishal D. Ramdas, Carroll A.B. Webers, Theo G.M.F. Gorgels
We then created a map of the expression of these genes in the eye using the data of the ocular tissue database (OTDB), a mRNA microarray study that specifies expression at the tissue level.23 The ocular expression data of the familial glaucoma associated genes are shown in Figure 1. For the highly and less likely candidate glaucoma risk genes, expression data are presented in Figures 2–3, respectively. Some SNPs are situated in between genes and it is difficult to establish which gene is affected by the SNP. For these SNPs, we took the gene expression of both genes in the vicinity of the SNP (these genes are highlighted in pink in the figures. Of eight highly likely (ADAMTS18, ARID5B, AVGR8, DIRC3, ENO4, NUDT7, PRR31, and U6) and seven less likely (DCLK3, GPDS1, THSD7A, RFPL4Bm mt-CYB, mt-CO1, and mt-ND2) candidate glaucoma genes we did not find expression levels in the OTDB. Seven SNPs were located in or near microRNA encoding transcripts (MIR548F3, MIR606, MIR3196, and MIR4707) or noncoding RNA transcripts (BASP1P1, LINC01734, and LINC00583) which were not measured on the microarray used in the OTDB study.