Review

. 2022 Jun;136(2):125-131.

doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

Valentina Emmanuele¹, Jaya Ganesh², Georgirene Vladutiu³, Richard Haas⁴, Douglas Kerr⁵, Russell P Saneto⁶, Bruce H Cohen⁷, Johan L K Van Hove⁸, Fernando Scaglia⁹, Charles Hoppel¹⁰, Xiomara Q Rosales¹, Emanuele Barca¹, Richard Buchsbaum¹¹, John L Thompson¹², Salvatore DiMauro¹, Michio Hirano¹³; North American Mitochondrial Disease Consortium (NAMDC)

Affiliations

¹ Department of Neurology, Columbia University Medical Center, New York, NY, USA.
² Division of Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
³ Departments of Pediatrics, Neurology, and Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.
⁴ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, CA, USA.
⁵ Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
⁶ Department of Neurology, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USA.
⁷ Department of Pediatrics, Children's Hospital Medical Center of Akron and Northeast Ohio Medical University, Akron, OH, USA.
⁸ Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.
⁹ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong Special Administrative Region.
¹⁰ Center for Mitochondrial Disease, School of Medicine, Case Western Reserve University, Cleveland, OH, United States of America.
¹¹ Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
¹² Department of Neurology, Columbia University Medical Center, New York, NY, USA; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
¹³ Department of Neurology, Columbia University Medical Center, New York, NY, USA. Electronic address: mh29@columbia.edu.

PMID: 35606253
PMCID: PMC9341219
DOI: 10.1016/j.ymgme.2022.05.001

Review

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

Valentina Emmanuele et al. Mol Genet Metab. 2022 Jun.

. 2022 Jun;136(2):125-131.

doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13.

Authors

Affiliations

¹ Department of Neurology, Columbia University Medical Center, New York, NY, USA.
² Division of Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
³ Departments of Pediatrics, Neurology, and Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.
⁴ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, CA, USA.
⁵ Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
⁶ Department of Neurology, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USA.
⁷ Department of Pediatrics, Children's Hospital Medical Center of Akron and Northeast Ohio Medical University, Akron, OH, USA.
⁸ Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.
⁹ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong Special Administrative Region.
¹⁰ Center for Mitochondrial Disease, School of Medicine, Case Western Reserve University, Cleveland, OH, United States of America.
¹¹ Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
¹² Department of Neurology, Columbia University Medical Center, New York, NY, USA; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
¹³ Department of Neurology, Columbia University Medical Center, New York, NY, USA. Electronic address: mh29@columbia.edu.

PMID: 35606253
PMCID: PMC9341219
DOI: 10.1016/j.ymgme.2022.05.001

Abstract

Objective: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes.

Methods: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers. The Committee conducted a comprehensive literature review, an evaluation of current clinical practices and diagnostic modalities, surveys, and teleconferences to reach consensus on syndrome definitions for mitochondrial diseases. The criteria were refined after manual application to patients enrolled in the NAMDC Registry.

Results: By building upon published diagnostic criteria and integrating recent advances, NAMDC has generated updated consensus criteria for the clinical definition of classical mitochondrial syndromes.

Conclusions: Mitochondrial diseases are clinically, biochemically, and genetically heterogeneous and therefore challenging to classify and diagnose. To harmonize terminology, we propose revised criteria for the clinical definition of mitochondrial disorders. These criteria are expected to standardize the diagnosis and categorization of mitochondrial diseases, which will facilitate future natural history studies and clinical trials.

Keywords: Mitochondrial DNA; Mitochondrial disease; Mitochondrial disorders; Oxidative-phosphorylation.

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Conflict of interest statement

Declaration of Competing Interest None reported.

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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

Affiliations

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

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