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Caroline Jacques, Delphine Guillotin, Jean-Fred Fontaine, Brigitte Franc, Delphine Mirebeau-Prunier, Audrey Fleury, Yves Malthiery, Frédérique Savagner
CONTEXT: Focusing on mitochondrial function and thyroid tumorigenesis, we used an integrative approach to identify relevant biomarkers for borderline thyroid lesions. DESIGN: Using cDNA and microRNA (miRNA) microarrays and quantitative RT-PCR analysis (qPCR), we explored samples of various types of thyroid tumors including 25 benign follicular adenomas represented by macrofollicular variants of thyroid adenomas, 38 oncocytic variants of follicular thyroid tumors, 19 papillary thyroid carcinomas, and 10 tumors of uncertain malignant potential, together with 53 normal thyroid tissue samples...
May 2013: Journal of Clinical Endocrinology and Metabolism
Stephen Fung, Tamiko Nishimura, Florin Sasarman, Eric A Shoubridge
Mammalian mitochondria harbor a dedicated translation apparatus that is required for the synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides, all of which are essential components of the oxidative phosphorylation (OXPHOS) complexes. Little is known about the mechanism of assembly of the mitoribosomes that catalyze this process. Here we show that C7orf30, a member of the large family of DUF143 proteins, associates with the mitochondrial large ribosomal subunit (mt-LSU). Knockdown of C7orf30 by short hairpin RNA (shRNA) does not alter the sedimentation profile of the mt-LSU, but results in the depletion of several mt-LSU proteins and decreased monosome formation...
February 2013: Molecular Biology of the Cell
Hui-Ju Lin, Yu-Chuen Huang, Jane-Ming Lin, Jer-Yuarn Wu, Liuh-An Chen, Fuu-Jen Tsai
PURPOSE: Diabetic retinopathy (DR) is one of the most common complications of diabetes mellitus (DM). The susceptibility genes responsible for increasing the risk for DR in type 2 diabetes (T2D) were sought in this study. METHODS: A case-control study was carried out, comprising 749 unrelated T2D individuals with (n = 174) and without (n = 575) DR. Genotypic distributions of single nucleotide polymorphisms (SNPs) were determined for subjects with and without DR...
2013: Ophthalmologica. Journal International D'ophtalmologie
Esko Kemppainen, Daniel Jose Moreno Fernández-Ayala, Laura C A Galbraith, Kevin M C O'Dell, Howard T Jacobs
A mutation in the Drosophila gene technical knockout (tko(25t)), encoding mitoribosomal protein S12, phenocopies human mitochondrial disease. We isolated three spontaneous X-dominant suppressors of tko(25t) (designated Weeble), exhibiting almost wild-type phenotype and containing overlapping segmental duplications including the mutant allele, plus a second mitoribosomal protein gene, mRpL14. Ectopic, expressed copies of tko(25t) and mRpL14 conferred no phenotypic suppression. When placed over a null allele of tko, Weeble retained the mutant phenotype, even in the presence of additional transgenic copies of tko(25t)...
September 2009: Mitochondrion
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