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Mitochondrial Diseases

  1. Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functi...

    Authors: Kim F. E. van de Loo, José A. E. Custers, Lonneke de Boer, Marloes van Lieshout, Maaike C. de Vries, Mirian C. H. Janssen and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:368
  2. Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic s...

    Authors: Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan and Saadet Mercimek-Andrews
    Citation: Orphanet Journal of Rare Diseases 2022 17:360
  3. Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to esta...

    Authors: Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr and Hilary J. Vernon
    Citation: Orphanet Journal of Rare Diseases 2022 17:336
  4. Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON w...

    Authors: Fumio Takano, Kaori Ueda, Daniel A. Godefrooij, Akiko Yamagami, Hiroto Ishikawa, Hideki Chuman, Hitoshi Ishikawa, Yasuhiro Ikeda, Taiji Sakamoto and Makoto Nakamura
    Citation: Orphanet Journal of Rare Diseases 2022 17:319
  5. Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy in...

    Authors: M. Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya and Eduardo Ruiz-Pesini
    Citation: Orphanet Journal of Rare Diseases 2022 17:316
  6. Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause ...

    Authors: Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S. Priglinger, Thomas Klopstock and Claudia B. Catarino
    Citation: Orphanet Journal of Rare Diseases 2022 17:310
  7. Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological a...

    Authors: Kim F. E. van de Loo, Nander T. van Zeijl, José A. E. Custers, Mirian C. H. Janssen and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:263
  8. Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely p...

    Authors: Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Irene Villalón-García, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Perez and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2022 17:204
  9. Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in child...

    Authors: Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili…
    Citation: Orphanet Journal of Rare Diseases 2021 16:413
  10. Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondr...

    Authors: Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí and Carmen Paradas
    Citation: Orphanet Journal of Rare Diseases 2021 16:407
  11. Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy ...

    Authors: Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin and Guido Pieles
    Citation: Orphanet Journal of Rare Diseases 2021 16:404
  12. The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondri...

    Authors: Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite and John Christodoulou
    Citation: Orphanet Journal of Rare Diseases 2021 16:310
  13. Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms ...

    Authors: Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love and Alan Shields
    Citation: Orphanet Journal of Rare Diseases 2021 16:264
  14. Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-target...

    Authors: Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2021 16:229
  15. Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young peop...

    Authors: Andrea Rabenstein, Claudia B. Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther and Thomas Klopstock
    Citation: Orphanet Journal of Rare Diseases 2021 16:127
  16. Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related preva...

    Authors: Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone and Maria Alice Donati
    Citation: Orphanet Journal of Rare Diseases 2020 15:196
  17. Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver trans...

    Authors: Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito…
    Citation: Orphanet Journal of Rare Diseases 2020 15:169
  18. Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and d...

    Authors: Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2020 15:76
  19. Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neu...

    Authors: Manuela Schubert Baldo and Laura Vilarinho
    Citation: Orphanet Journal of Rare Diseases 2020 15:31

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:77

  20. Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy p...

    Authors: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III and Alan L. Shields
    Citation: Orphanet Journal of Rare Diseases 2019 14:243
  21. Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehy...

    Authors: Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch and Manuel Schiff
    Citation: Orphanet Journal of Rare Diseases 2019 14:236
  22. The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences...

    Authors: Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy and Eduardo Ruiz-Pesini
    Citation: Orphanet Journal of Rare Diseases 2019 14:150
  23. TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of...

    Authors: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi…
    Citation: Orphanet Journal of Rare Diseases 2019 14:100
  24. Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability i...

    Authors: Bruce Cohen, Cristy Balcells, Brian Hotchkiss, Kavita Aggarwal and Amel Karaa
    Citation: Orphanet Journal of Rare Diseases 2018 13:210
  25. Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...

    Authors: Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski…
    Citation: Orphanet Journal of Rare Diseases 2018 13:120
  26. The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, sever...

    Authors: Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten and Rudy Van Coster
    Citation: Orphanet Journal of Rare Diseases 2018 13:80
  27. KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in K...

    Authors: Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini and Daniele Ghezzi
    Citation: Orphanet Journal of Rare Diseases 2018 13:45
  28. To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients.

    Authors: Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini
    Citation: Orphanet Journal of Rare Diseases 2018 13:35
  29. More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abn...

    Authors: Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen and Jan Smeitink
    Citation: Orphanet Journal of Rare Diseases 2017 12:91

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2017 12:170

  30. Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been des...

    Authors: Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi…
    Citation: Orphanet Journal of Rare Diseases 2017 12:89
  31. Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...

    Authors: Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg…
    Citation: Orphanet Journal of Rare Diseases 2017 12:73
  32. The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders.

    Authors: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali and Lihadh Al-Gazali
    Citation: Orphanet Journal of Rare Diseases 2016 11:139
  33. Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches ...

    Authors: Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby and Hans H. Jung
    Citation: Orphanet Journal of Rare Diseases 2016 11:105
  34. Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed l...

    Authors: Christianne Verhaak, Paul de Laat, Saskia Koene, Marijke Tibosch, Richard Rodenburg, Imelda de Groot, Hans Knoop, Mirian Janssen and Jan Smeitink
    Citation: Orphanet Journal of Rare Diseases 2016 11:25