A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

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作者：Julie Thompson Legault¹ ; ³ ; Laura Strittmatter⁵ ; Jessica Tardif⁶ ; Rohit Sharma⁵ ; Vanessa Tremblay-Vaillancourt⁶ ; Chantale Aubut⁶ ; ⁷ ; Gabrielle Boucher³ ; Clary B. Clish⁸ ; Denis Cyr⁹ ; Caroline Daneault³ ; Paula J. Waters⁹ ; The LSFC Consortium ; Azadeh Aliskashani ; Bruce G. Allen ; Chantale Aubut ; Claudine Beauchamp ; Chantal Bemeur ; Yan Burelle ; Guy Charron ; Lise Coderre ; Christine Des Rosiers ; Sonia Deschê ; nes ; Franç ; ois Labarthe ; Jeannine Landry ; Catherine Laprise ; Geneviè ; ve Lavallé ; e ; Pierre Lavoie ; Bruno Maranda ; Charles Morin ; Yvette Mukaneza ; Tamiko Nishimura ; John D. Rioux ; Marie-È ; ve Rivard ; Florin Sasarman ; Eric A. Shoubridge ; Jessica Tardif ; Julie Thompson Legault ; Nancy Tremblay ; Vanessa Tremblay-Vaillancourt ; Luc Vachon ; José ; e Villeneuve
刊名：Cell Reports
出版年：2015
出版时间：3 November 2015
年：2015
卷：13
期：5
页码：981-989
全文大小：660 K

文摘

•: A metabolic signature is revealed in patients with a genetic mitochondrial disorder
•: Profiling of 407 plasma/urine analytes identified 45 distinctive markers
•: Markers reflect changes in cardiovascular risk as well as NAD⁺ lipid and amine metabolism
•: Markers also include metabolites linked to neurodegeneration

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