Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection |
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| Authors: | Pistilli Daniela di Gioia Cira R T D'Amati Giulia Sciacchitano Salvatore Quaglione Raffaele Quitadamo Raffaella Casali Carlo Gallo Pietro Santorelli Filippo M |
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| Affiliation: | Department of Experimental Medicine and Pathology, Institute of Cardiac Surgery-I Medical School, La Sapienza University, Rome, Italy. |
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| Abstract: | A novel 4949-base pair mitochondrial DNA (mtDNA) deletion was detected in various tissues in a postmortem study of a patient with Kearns-Sayre syndrome (KSS). Deleted mtDNA levels were higher in skeletal muscle and brain and lower in kidney, working myocardium, and endocrine tissues (thyroid, parathyroids, pancreas, and adrenal glands). The distribution of the deletion in skeletal muscle and conducting myocardium was analyzed by means of laser capture microdissection (LCM). In skeletal muscle, the abundance of deleted mtDNA was slightly higher in cytochrome c oxidase (COX)-negative fibers (70%) than in COX-positive fibers (64%), whereas in the conducting myocardium it was lower in the atrioventricular node (9%) than in the sinus node and bundle of His (30% and 32%, respectively). In this study, LCM proved to be a reliable technique for a more accurate assessment of genotype/phenotype correlation when investigating mtDNA-related disorders. |
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| Keywords: | Kearns-Sayre syndrome mitochondrial DNA deletion laser capture microdissection cardiac conduction system |
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