Literature DB >> 24284231

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.

Rebecca J Levy1, Purificación Gutierrez Ríos1, Hasan O Akman1, Monica Sciacco2, Darryl C De Vivo1, Salvatore DiMauro3.   

Abstract

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation.
© The Author(s) 2013.

Entities:  

Keywords:  Leigh syndrome; ND3; complex I deficiency; m.10191T>C; mitochondria

Mesh：

Substances：

Year:  2013        PMID： 24284231      PMCID： PMC4035473          DOI： 10.1177/0883073813506783

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  32 in total

1.  Secondary metabolic effects in complex I deficiency.

Authors:  Nayla Esteitie; Reetta Hinttala; Rolf Wibom; Helene Nilsson; Nicole Hance; Karin Naess; Kristina Teär-Fahnehjelm; Ulrika von Döbeln; Kari Majamaa; Nils-Göran Larsson
Journal:  Ann Neurol       Date:  2005-10       Impact factor: 10.422

2.  Leigh syndrome: clinical and neuroimaging follow-up.

Authors:  Hsiu-Fen Lee; Chi-Ren Tsai; Ching-Shiang Chi; Huei-Jane Lee; Clayton Chi-Chang Chen
Journal:  Pediatr Neurol       Date:  2009-02       Impact factor: 3.372

3.  Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.

Authors:  E Leshinsky-Silver; D Lev; Z Tzofi-Berman; S Cohen; A Saada; M Yanoov-Sharav; E Gilad; T Lerman-Sagie
Journal:  Biochem Biophys Res Commun       Date:  2005-08-26       Impact factor: 3.575

4.  Clinical manifestations in children with mitochondrial diseases.

Authors:  Ching-Shiang Chi; Hsiu-Fen Lee; Chi-Ren Tsai; Huei-Jane Lee; Liang-Hui Chen
Journal:  Pediatr Neurol       Date:  2010-09       Impact factor: 3.372

5.  Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.

Authors:  Byung Chan Lim; Jun Dong Park; Hee Hwang; Ki Joong Kim; Yong Seung Hwang; Jong-Hee Chae; Jung-Eun Cheon; In One Kim; Ran Lee; Han Ku Moon
Journal:  J Child Neurol       Date:  2009-07       Impact factor: 1.987

6.  Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

Authors:  S Bannwarth; V Procaccio; C Rouzier; K Fragaki; J Poole; B Chabrol; C Desnuelle; J Pouget; J P Azulay; S Attarian; J F Pellissier; J J Gargus; J E Abdenur; T Mozaffar; P Calvas; P Labauge; M Pages; D C Wallace; J C Lambert; V Paquis-Flucklinger
Journal:  Mitochondrion       Date:  2007-11-06       Impact factor: 4.160

7.  Identification of the mitochondrial ND3 subunit as a structural component involved in the active/deactive enzyme transition of respiratory complex I.

Authors:  Alexander Galkin; Björn Meyer; Ilka Wittig; Michael Karas; Hermann Schägger; Andrei Vinogradov; Ulrich Brandt
Journal:  J Biol Chem       Date:  2008-05-23       Impact factor: 5.157

8.  Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Authors:  Klaus G E Werner; Chantal F Morel; Adam Kirton; Susanne M Benseler; John M Shoffner; Jane B L Addis; Brian H Robinson; Delilah M Burrowes; Susan I Blaser; Leon G Epstein; Annette S J Feigenbaum
Journal:  Pediatr Neurol       Date:  2009-07       Impact factor: 3.372

9.  Clinical and molecular findings in children with complex I deficiency.

Authors:  M Bugiani; F Invernizzi; S Alberio; E Briem; E Lamantea; F Carrara; I Moroni; L Farina; M Spada; M A Donati; G Uziel; M Zeviani
Journal:  Biochim Biophys Acta       Date:  2004-12-06

10.  Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Authors:  Edoardo Malfatti; Marianna Bugiani; Federica Invernizzi; Carolina Fischinger-Moura de Souza; Laura Farina; Franco Carrara; Eleonora Lamantea; Carlo Antozzi; Paolo Confalonieri; Maria Teresa Sanseverino; Roberto Giugliani; Graziella Uziel; Massimo Zeviani
Journal:  Brain       Date:  2007-05-29       Impact factor: 13.501
View more
  8 in total

Review 1.  An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.

Authors:  Aaron A Harthan
Journal:  J Pediatr Pharmacol Ther       Date:  2018 Nov-Dec

Review 2.  The neuroimaging of Leigh syndrome: case series and review of the literature.

Authors:  Eliana Bonfante; Mary Kay Koenig; Rahmat B Adejumo; Vinu Perinjelil; Roy F Riascos
Journal:  Pediatr Radiol       Date:  2016-01-06

3.  Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.

Authors:  Thomas Johnstone; Jennifer Wang; Daron Ross; Nicholas Balanda; Yan Huang; Rena Godfrey; Catherine Groden; Brandon R Barton; William Gahl; Camilo Toro; May Christine V Malicdan
Journal:  Mol Genet Metab       Date:  2020-10-14       Impact factor: 4.797

Review 4.  The genetics of Leigh syndrome and its implications for clinical practice and risk management.

Authors:  Ilene S Ruhoy; Russell P Saneto
Journal:  Appl Clin Genet       Date:  2014-11-13

5.  Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.

Authors:  Masako Mukai; Eiichiro Nagata; Atsushi Mizuma; Mitsuhiko Yamano; Keizo Sugaya; Ichizo Nishino; Yu-Ichi Goto; Shunya Takizawa
Journal:  Intern Med       Date:  2017-01-01       Impact factor: 1.271

6.  Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3.

Authors:  Shaundra M Newstead; Josef Finsterer
Journal:  Cureus       Date:  2022-09-09

Review 7.  Ischemic A/D transition of mitochondrial complex I and its role in ROS generation.

Authors:  Stefan Dröse; Anna Stepanova; Alexander Galkin
Journal:  Biochim Biophys Acta       Date:  2016-01-09

8.  Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation.

Authors:  Ji-Hoon Na; Min Jung Lee; Chul Ho Lee; Young-Mock Lee
Journal:  Front Neurol       Date:  2021-12-10       Impact factor: 4.003
  8 in total

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