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A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Abstract
The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineural hearing loss. The percentage of mutation load in different tissues was similar in both subjects, except in the urinary epithelium. The mutation load in the son's urinary epithelial cells (UEC) was consistently higher (nearly 50%) than in his muscle (nearly 20%). We conclude that a correlation between the proportion of the UEC mutation load and the severity of the disease was lacking in this pedigree. The use of UEC as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation offers a very attractive alternative to muscle biopsy. Finally, our data expand the clinical spectrum of the 3243A>G mutation.
AuthorsAnna Rubegni, Elena Cardaioli, Elena Chini, Paola Da Pozzo, Carla Battisti, Alessandro Malandrini, Antonio Federico
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 338 Issue 1-2 Pg. 232-4 (Mar 15 2014) ISSN: 1878-5883 [Electronic] Netherlands
PMID24468540 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2014 Elsevier B.V. All rights reserved.
Chemical References
  • DNA, Mitochondrial
  • Creatine Kinase
Topics
  • Creatine Kinase (blood)
  • DNA Mutational Analysis
  • DNA, Mitochondrial (genetics)
  • Humans
  • Male
  • Mitochondrial Diseases (blood, genetics, pathology)
  • Muscle, Skeletal (metabolism, pathology)
  • Mutation (genetics)
  • Young Adult

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