OBJECTIVES: To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS: Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle. CONCLUSIONS: Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.
OBJECTIVES: To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS: Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle. CONCLUSIONS:Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.
Authors: S Venkateswaran; K Zheng; M Sacchetti; D Gagne; D L Arnold; A D Sadovnick; S W Scherer; B Banwell; A Bar-Or; D K Simon Journal: Neurology Date: 2011-02-02 Impact factor: 9.910
Authors: Moyra Smith; Pamela L Flodman; John J Gargus; Mariella T Simon; Kimberley Verrell; Richard Haas; Gail E Reiner; Robert Naviaux; Katherine Osann; M Anne Spence; Douglas C Wallace Journal: Biochim Biophys Acta Date: 2012-04-17
Authors: Martin Picard; Jiangwen Zhang; Saege Hancock; Olga Derbeneva; Ryan Golhar; Pawel Golik; Sean O'Hearn; Shawn Levy; Prasanth Potluri; Maria Lvova; Antonio Davila; Chun Shi Lin; Juan Carlos Perin; Eric F Rappaport; Hakon Hakonarson; Ian A Trounce; Vincent Procaccio; Douglas C Wallace Journal: Proc Natl Acad Sci U S A Date: 2014-09-05 Impact factor: 11.205
Authors: Guomei Tang; Puri Gutierrez Rios; Sheng-Han Kuo; Hasan Orhan Akman; Gorazd Rosoklija; Kurenai Tanji; Andrew Dwork; Eric A Schon; Salvatore Dimauro; James Goldman; David Sulzer Journal: Neurobiol Dis Date: 2013-01-17 Impact factor: 5.996