Literature DB >> 16168441

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

Monica Sciacco1, Alessandro Prelle, Gigliola Fagiolari, Andreina Bordoni, Marco Crimi, Alessio Di Fonzo, Patrizia Ciscato, Costanza Lamperti, Elisabetta D'Adda, Stefano Jann, Nereo Bresolin, Giacomo P Comi, Maurizio Moggio.   

Abstract

A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.

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Year:  2005        PMID： 16168441     DOI： 10.1016/j.jns.2005.07.008

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  9 in total

1.  Mitochondrial genome analysis in penile carcinoma.

Authors:  L F Araujo; A T Terra; C T G Sares; C F R Sobreira; E F Faria; R D Machado; A A Rodrigues; V F Muglia; W A Silva; R B Reis
Journal:  Mol Biol Rep       Date:  2018-06-12       Impact factor: 2.316

2.  Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life.

Authors:  David Cucchiari; Irene Colombo; Ottavia Amato; Manuel Alfredo Podestà; Francesco Reggiani; Rossella Valentino; Irene Faravelli; Silvia Testolin; Maurizio Moggio; Salvatore Badalamenti
Journal:  CEN Case Rep       Date:  2017-12-12

3.  Type II diabetes increases mitochondrial DNA mutations in the left ventricle of the Goto-Kakizaki diabetic rat.

Authors:  S Hicks; N Labinskyy; B Piteo; D Laurent; J E Mathew; S A Gupte; J G Edwards
Journal:  Am J Physiol Heart Circ Physiol       Date:  2013-02-01       Impact factor: 4.733

4.  Quantification of mitochondrial DNA (mtDNA) damage and error rates by real-time QPCR.

Authors:  John G Edwards
Journal:  Mitochondrion       Date:  2008-12-07       Impact factor: 4.160

Review 5.  Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

Authors:  Nicholas Ivin; Valentina Della Torre; Francis Sanders; Matthew Youngman
Journal:  J Intensive Care Soc       Date:  2019-12-18

6.  Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Authors:  Ivan Shelihan; Elsa Rossignol; Jean-Claude Décarie; Jean-Paul Bonnefont; Michèle Brivet; Catherine Brunel-Guitton; Grant A Mitchell
Journal:  JIMD Rep       Date:  2021-09-29

7.  Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA.

Authors:  Kazuhiro Nakaso; Yoshiki Adachi; Emi Fusayasu; Koji Doi; Keiko Imamura; Kenichi Yasui; Kenji Nakashima
Journal:  J Clin Neurol       Date:  2012-09-27       Impact factor: 3.077

8.  Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber's Hereditary Optic Neuropathy Cells.

Authors:  Micol Falabella; Elena Forte; Maria Chiara Magnifico; Paolo Santini; Marzia Arese; Alessandro Giuffrè; Kristina Radić; Luciana Chessa; Giulia Coarelli; Maria Chiara Buscarinu; Rosella Mechelli; Marco Salvetti; Paolo Sarti
Journal:  Oxid Med Cell Longev       Date:  2015-12-31       Impact factor: 6.543

9.  Myocardial Mitochondria at the Intersection of Health and Disease.

Authors:  J G Edwards
Journal:  J Clin Exp Cardiolog       Date:  2013-03-16
  9 in total

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