TY - JOUR
T1 - Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection
AU - Pistilli, Daniela
AU - Di Gioia, Cira R T
AU - D'Amati, Giulia
AU - Sciacchitano, Salvatore
AU - Quaglione, Raffaele
AU - Quitadamo, Raffaella
AU - Casali, Carlo
AU - Gallo, Pietro
AU - Santorelli, Filippo M.
PY - 2003/10
Y1 - 2003/10
N2 - 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.
AB - 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.
KW - Cardiac conduction system
KW - Kearns-Sayre syndrome
KW - Laser capture microdissection
KW - Mitochondrial DNA deletion
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U2 - 10.1053/S0046-8177(03)00344-7
DO - 10.1053/S0046-8177(03)00344-7
M3 - Article
C2 - 14608542
AN - SCOPUS:0142169909
SN - 0046-8177
VL - 34
SP - 1058
EP - 1061
JO - Human Pathology
JF - Human Pathology
IS - 10
ER -