Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation

Valentina Emmanuele, Evangelia Sotiriou, Maryam Shirazi, Kurenai Tanji, Ronald G. Haller, Katja Heinicke, Peter E. Bosch, Michio Hirano, Salvatore Dimauro

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of myoglobinuria, but it has been described in sporadic cases with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65%) than in normal fibers (45%). This novel mutation has to be added to the molecular causes of recurrent myoglobinuria.

Original languageEnglish (US)
Pages (from-to)39-42
Number of pages4
JournalJournal of the Neurological Sciences
Volume303
Issue number1-2
DOIs
StatePublished - Apr 15 2011

Fingerprint

RNA, Transfer, Ile
Mitochondrial DNA
Mutation
Myoglobinuria
Transfer RNA
Oxidoreductases
Muscles
Cytochromes b
Isoleucine
Cheek
Myalgia
Muscular Diseases
Electron Transport Complex IV
Electron Transport
Southern Blotting
Recurrent Myoglobinuria
Drug-Related Side Effects and Adverse Reactions
Glycogen
Genes
Mucous Membrane

Keywords

  • Elevated serum CK
  • Mitochondrial DNA
  • Mitochondrial myopathy
  • Myalgia
  • Myoglobinuria
  • tRNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation. / Emmanuele, Valentina; Sotiriou, Evangelia; Shirazi, Maryam; Tanji, Kurenai; Haller, Ronald G.; Heinicke, Katja; Bosch, Peter E.; Hirano, Michio; Dimauro, Salvatore.

In: Journal of the Neurological Sciences, Vol. 303, No. 1-2, 15.04.2011, p. 39-42.

Research output: Contribution to journalArticle

Emmanuele, V, Sotiriou, E, Shirazi, M, Tanji, K, Haller, RG, Heinicke, K, Bosch, PE, Hirano, M & Dimauro, S 2011, 'Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation', Journal of the Neurological Sciences, vol. 303, no. 1-2, pp. 39-42. https://doi.org/10.1016/j.jns.2011.01.018
Emmanuele, Valentina ; Sotiriou, Evangelia ; Shirazi, Maryam ; Tanji, Kurenai ; Haller, Ronald G. ; Heinicke, Katja ; Bosch, Peter E. ; Hirano, Michio ; Dimauro, Salvatore. / Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation. In: Journal of the Neurological Sciences. 2011 ; Vol. 303, No. 1-2. pp. 39-42.
@article{4c519dd6d17242e697c91a807be74105,
title = "Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation",
abstract = "The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of myoglobinuria, but it has been described in sporadic cases with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46{\%} and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65{\%}) than in normal fibers (45{\%}). This novel mutation has to be added to the molecular causes of recurrent myoglobinuria.",
keywords = "Elevated serum CK, Mitochondrial DNA, Mitochondrial myopathy, Myalgia, Myoglobinuria, tRNA",
author = "Valentina Emmanuele and Evangelia Sotiriou and Maryam Shirazi and Kurenai Tanji and Haller, {Ronald G.} and Katja Heinicke and Bosch, {Peter E.} and Michio Hirano and Salvatore Dimauro",
year = "2011",
month = "4",
day = "15",
doi = "10.1016/j.jns.2011.01.018",
language = "English (US)",
volume = "303",
pages = "39--42",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation

AU - Emmanuele, Valentina

AU - Sotiriou, Evangelia

AU - Shirazi, Maryam

AU - Tanji, Kurenai

AU - Haller, Ronald G.

AU - Heinicke, Katja

AU - Bosch, Peter E.

AU - Hirano, Michio

AU - Dimauro, Salvatore

PY - 2011/4/15

Y1 - 2011/4/15

N2 - The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of myoglobinuria, but it has been described in sporadic cases with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65%) than in normal fibers (45%). This novel mutation has to be added to the molecular causes of recurrent myoglobinuria.

AB - The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of myoglobinuria, but it has been described in sporadic cases with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65%) than in normal fibers (45%). This novel mutation has to be added to the molecular causes of recurrent myoglobinuria.

KW - Elevated serum CK

KW - Mitochondrial DNA

KW - Mitochondrial myopathy

KW - Myalgia

KW - Myoglobinuria

KW - tRNA

UR - http://www.scopus.com/inward/record.url?scp=79952818365&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79952818365&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2011.01.018

DO - 10.1016/j.jns.2011.01.018

M3 - Article

VL - 303

SP - 39

EP - 42

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1-2

ER -