Abstract
Apoptosis, or programmed cell death, is an evolutionary conserved mechanism essential for morphogenesis and tissue homeostasis, but it plays an important role also in pathologic conditions, including neurologic disorders. Its execution pathway is critically regulated at the mitochondrial level. Evidence of apoptosis in muscle specimens was investigated in patients with genetically defined mitochondrial encephalomyopathies. Thirty-three muscle biopsies from patients with genotypically different mitochondrial diseases (single and multiple deletions, A3243G/A8344G point mutations of the mitochondrial DNA) were studied. The terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) reaction was used as a marker of nuclear DNA fragmentation, as well as antibodies against pro- (Fas) or anti- (Bcl-2) apoptotic factors. Also, because one hallmark of apoptosis is morphologic, ultrastructural studies were performed on skeletal muscle from 18 of 33 patients, examining both phenotypically normal and ragged red fibers. In all muscle biopsies, no significant expression of either pro (Fas) and inhibiting (Bcl-2) apoptosis-related proteins was found, nor TUNEL positivity. This latter finding is confirmed by lack of morpholog...Continue Reading
Citations
Sep 5, 2002·Muscle & Nerve·Gigliola FagiolariAlessandro Prelle
May 6, 2003·Biochemical and Biophysical Research Communications·Anne Chomyn, Giuseppe Attardi
Oct 26, 2002·Neuromuscular Disorders : NMD·Joanna L ElsonPatrick F Chinnery
Jul 28, 2011·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Benjamin J GradyUNKNOWN ACTG 384 and DACS 250 Study Teams
Feb 6, 2003·The Journal of Clinical Investigation·Eric A Schon, Giovanni Manfredi
Feb 10, 2016·Scientific Reports·Gabriela Silva RodriguesCélia Harumi Tengan
Aug 6, 2014·Biochimica Et Biophysica Acta·Serena PagliaraniGiacomo P Comi
Jun 21, 2005·Annals of the New York Academy of Sciences·Yi-Shing MaYau-Huei Wei
Jun 7, 2005·Muscle & Nerve·Dominique S Tews
May 6, 2004·Annals of the New York Academy of Sciences·Chun-Yi LiuYau-Huei Wei
Oct 12, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Andrea CiammolaGabriella Malfatto
Feb 13, 2003·Neuropathology and Applied Neurobiology·M FilostoG Tomelleri
Feb 7, 2008·American Journal of Human Genetics·Harsha Karur RajasimhaDavid C Samuels
Feb 25, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Marco CrimiGiacomo Pietro Comi
Nov 4, 2015·Clinical Science·Valeria GuglielmiGiuliano Tomelleri
Aug 17, 2018·Journal of Neuroscience Research·Michela RipoloneMonica Sciacco
Mar 16, 2006·Brain : a Journal of Neurology·Karine AuréAnne Lombès
Mar 18, 2003·Journal of Neuropathology and Experimental Neurology·Anders Oldfors, Már Tulinius
May 2, 2003·Acta Neuropathologica·Alessandro SimonatiNicolo' Rizzuto
May 8, 2003·Acta Neuropathologica·A PrelleM Moggio