Literature DB >> 20818724

Historical perspective on mitochondrial medicine.

Salvatore DiMauro1, Caterina Garone.   

Abstract

In this review, we trace the origins and follow the development of mitochondrial medicine from the premolecular era (1962-1988) based on clinical clues, muscle morphology, and biochemistry into the molecular era that started in 1988 and is still advancing at a brisk pace. We have tried to stress conceptual advances, such as endosymbiosis, uniparental inheritance, intergenomic signaling and its defects, and mitochondrial dynamics. We hope that this historical review also provides an update on mitochondrial medicine, although we fully realize that the speed of progress in this area makes any such endeavor akin to writing on water. (c) 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20818724      PMCID: PMC3839238          DOI: 10.1002/ddrr.102

Source DB:  PubMed          Journal:  Dev Disabil Res Rev        ISSN: 1940-5529


  136 in total

1.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

2.  A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study.

Authors:  R LUFT; D IKKOS; G PALMIERI; L ERNSTER; B AFZELIUS
Journal:  J Clin Invest       Date:  1962-09       Impact factor: 14.808

Review 3.  Nuclear genes and mitochondrial translation: a new class of genetic disease.

Authors:  Howard T Jacobs; Douglass M Turnbull
Journal:  Trends Genet       Date:  2005-06       Impact factor: 11.639

4.  Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

Authors:  Luis Carlos López; Markus Schuelke; Catarina M Quinzii; Tomotake Kanki; Richard J T Rodenburg; Ali Naini; Salvatore Dimauro; Michio Hirano
Journal:  Am J Hum Genet       Date:  2006-10-27       Impact factor: 11.025

5.  Population prevalence of the MELAS A3243G mutation.

Authors:  Neil Manwaring; Michael M Jones; Jie Jin Wang; Elena Rochtchina; Chris Howard; Paul Mitchell; Carolyn M Sue
Journal:  Mitochondrion       Date:  2007-01-08       Impact factor: 4.160

6.  Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Authors:  Anna H Hakonen; Pirjo Isohanni; Anders Paetau; Riitta Herva; Anu Suomalainen; Tuula Lönnqvist
Journal:  Brain       Date:  2007-10-05       Impact factor: 13.501

7.  An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Authors:  F Takakubo; P Cartwright; N Hoogenraad; D R Thorburn; F Collins; T Lithgow; H H Dahl
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  C6ORF66 is an assembly factor of mitochondrial complex I.

Authors:  Ann Saada; Simon Edvardson; Matan Rapoport; Avraham Shaag; Khaled Amry; Chaya Miller; Haya Lorberboum-Galski; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

9.  Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

Authors:  L De Meirleir; S Seneca; W Lissens; I De Clercq; F Eyskens; E Gerlo; J Smet; R Van Coster
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

10.  Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Authors:  Erika Fernandez-Vizarra; Marianna Bugiani; Paola Goffrini; Franco Carrara; Laura Farina; Elena Procopio; Alice Donati; Graziella Uziel; Iliana Ferrero; Massimo Zeviani
Journal:  Hum Mol Genet       Date:  2007-04-02       Impact factor: 6.150

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  11 in total

Review 1.  Mitochondrial disorders and the eye.

Authors:  Samantha A Schrier; Marni J Falk
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

2.  Mitochondrial Diseases: A Clinical and Molecular History.

Authors:  Steven G Pavlakis; Michio Hirano
Journal:  Pediatr Neurol       Date:  2016-06-02       Impact factor: 3.372

3.  Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue.

Authors:  Diana Whitaker-Menezes; Ubaldo E Martinez-Outschoorn; Neal Flomenberg; Ruth C Birbe; Agnieszka K Witkiewicz; Anthony Howell; Stephanos Pavlides; Aristotelis Tsirigos; Adam Ertel; Richard G Pestell; Paolo Broda; Carlo Minetti; Michael P Lisanti; Federica Sotgia
Journal:  Cell Cycle       Date:  2011-12-01       Impact factor: 4.534

4.  Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Authors:  Célia Nogueira; José Barros; Maria José Sá; Luísa Azevedo; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; João Teixeira; Rosalba Carrozzo; Manuel Melo Pires; Laura Vilarinho; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2013-03-28       Impact factor: 2.660

Review 5.  Molecular genetic testing for mitochondrial disease: from one generation to the next.

Authors:  Elizabeth McCormick; Emily Place; Marni J Falk
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 6.  Applying genomic and transcriptomic advances to mitochondrial medicine.

Authors:  William L Macken; Jana Vandrovcova; Michael G Hanna; Robert D S Pitceathly
Journal:  Nat Rev Neurol       Date:  2021-02-23       Impact factor: 42.937

Review 7.  MtDNA As a Cancer Marker: A Finally Closed Chapter?

Authors:  Elmar Kirches
Journal:  Curr Genomics       Date:  2017-06       Impact factor: 2.236

Review 8.  Intimate Relations-Mitochondria and Ageing.

Authors:  Michael Webb; Dionisia P Sideris
Journal:  Int J Mol Sci       Date:  2020-10-14       Impact factor: 5.923

Review 9.  The Dimensions of Primary Mitochondrial Disorders.

Authors:  Lea D Schlieben; Holger Prokisch
Journal:  Front Cell Dev Biol       Date:  2020-11-26

Review 10.  Syndromes associated with mitochondrial DNA depletion.

Authors:  Célia Nogueira; Ligia S Almeida; Claudia Nesti; Ilaria Pezzini; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2014-04-03       Impact factor: 2.638

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