000150665 001__ 150665
000150665 005__ 20250214153850.0
000150665 0247_ $$2doi$$a10.1016/j.mito.2015.03.001
000150665 0248_ $$2sideral$$a89762
000150665 037__ $$aART-2015-89762
000150665 041__ $$aeng
000150665 100__ $$aO''Callaghan,M. M.
000150665 245__ $$aMutation loads in different tissues from six pathogenic mtDNA point mutations
000150665 260__ $$c2015
000150665 5060_ $$aAccess copy available to the general public$$fUnrestricted
000150665 5203_ $$aIn this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > C in the blood, urine and buccal mucosa of a cohort of 27 subjects.
Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutation loads in the blood, urine and the buccal mucosa were significantly higher in the mitochondrial disorder group that manifested clinical signs than in the asymptomatic subjects. In conclusion, urine is a suitable biological sample for molecular diagnosis of mtDNA mutations and for the study of the attendant risk of recurrence in the offspring of asymptomatic mothers identified as non-carriers after mutation analysis in blood.
000150665 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000150665 590__ $$a3.647$$b2015
000150665 591__ $$aGENETICS & HEREDITY$$b48 / 166 = 0.289$$c2015$$dQ2$$eT1
000150665 591__ $$aCELL BIOLOGY$$b78 / 187 = 0.417$$c2015$$dQ2$$eT2
000150665 592__ $$a1.804$$b2015
000150665 593__ $$aMolecular Medicine$$c2015$$dQ1
000150665 593__ $$aCell Biology$$c2015$$dQ2
000150665 593__ $$aMolecular Biology$$c2015$$dQ2
000150665 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000150665 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador,S.
000150665 700__ $$aPineda,M.
000150665 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo,E.$$uUniversidad de Zaragoza
000150665 700__ $$aMontero,R.
000150665 700__ $$aYubero,D.
000150665 700__ $$aJou,C.
000150665 700__ $$aJimenez-Mallebrera,C.
000150665 700__ $$aNascimento,A.
000150665 700__ $$aFerrer,I.
000150665 700__ $$0(orcid)0000-0001-8245-349X$$aGarcía-Cazorla,A.
000150665 700__ $$aRuiz-Pesini,E.
000150665 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya,J.$$uUniversidad de Zaragoza
000150665 700__ $$aArtuch,R.
000150665 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000150665 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000150665 773__ $$g22 (2015), 17-22$$pMitochondrion$$tMITOCHONDRION$$x1567-7249
000150665 8564_ $$s448821$$uhttps://zaguan.unizar.es/record/150665/files/texto_completo.pdf$$yPostprint
000150665 8564_ $$s2337265$$uhttps://zaguan.unizar.es/record/150665/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000150665 909CO $$ooai:zaguan.unizar.es:150665$$particulos$$pdriver
000150665 951__ $$a2025-02-14-14:02:15
000150665 980__ $$aARTICLE