Journal of the Formosan Medical Association
Volume 106, Issue 7 , Pages 528-536 , 2007

A Follow-up Study in a Taiwanese Family with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes Syndrome

  • Jie-Yuan Li

      Affiliations

    • Division of Neurology, School of Life Sciences, National Yang-Ming University, Taipei, Taiwan
    • ,
  • Rong-Hong Hsieh

      Affiliations

    • School of Nutrition and Health Sciences, Taipei Medical University, Taipei, Taiwan
    • ,
  • Nan-Jing Peng

      Affiliations

    • Departments of Nuclear Medicine Kaohsiung Veterans General Hospital, Kaohsiung and National Yang-Ming University, Taipei, Taiwan
    • ,
  • Ping-Hong Lai

      Affiliations

    • Departments of Nuclear Medicine and Radiology, Kaohsiung Veterans General Hospital, Kaohsiung and National Yang-Ming University, Taipei, Taiwan
    • ,
  • Cheng-Feng Lee

      Affiliations

    • Department of Biochemistry and Molecular Biology, School of Life Sciences, National Yang-Ming University, Taipei, Taiwan
    • ,
  • Yuk-Keung Lo

      Affiliations

    • Division of Neurology, School of Life Sciences, National Yang-Ming University, Taipei, Taiwan
    • ,
  • Yau-Huei Wei

      Affiliations

    • Department of Biochemistry and Molecular Biology, School of Life Sciences, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Professor Yau-Huei Wei, Department of Biochemistry and Molecular Biology, School of Life Sciences, National Yang-Ming University, 155 Li-Nong Street, Section 2, Shih-Pai, Taipei 112, Taiwan

Received 30 November 2006 ,Revised 28 December 2006 ,Accepted 13 March 2007.

References 

  1. DiMauro S , Hirano M , Schon EA . Approaches to the treatment of mitochondrial diseases . Muscle Nerve . 2006;34:265–283
  2. Pavlakis SG , Phillips PC , DiMauro S , et al.   Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome . Ann Neurol . 1984;16:481–488
  3. Wallace DC . Mitochondrial diseases in man and mouse . Science . 1999;283:1482–1488
  4. Kobayashi Y , Momoi MY , Tominaga K , et al.   A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) . Biochem Biophys Res Commun . 1990;173:816–822
  5. Goto Y , Nonaka I , Horai S . A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies . Nature . 1990;348:651–653
  6. Damian MS , Seibel P , Reichmann H , et al.   Clinical spectrum of the MELAS mutation in a large pedigree . Acta Neurol Scand . 1995;92:409–415
  7. DiMauro S . Mitochondrial diseases . Biochim Biophys Acta . 2004;1658:80–88
  8. Moraes CT , Ciacci F , Silvestri G , et al.   Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA . Neuromuscul Disord . 1993;3:43–50
  9. Kadowaki T , Kadowaki H , Mori Y , et al.   A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA . N Engl J Med . 1994;330:962–968
  10. Li JY , Kong KW , Chang MH , et al.   MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA . Acta Neurol Scand . 1996;93:450–455
  11. Hsieh RH , Li JY , Pang CY , Wei YH . A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy . J Biomed Sci . 2001;8:328–335
  12. Ciafaloni E , Ricci E , Shanske S , et al.   MELAS: clinical features, biochemistry, and molecular genetics . Ann Neurol . 1992;31:391–398
  13. Nardin RA , Johns DR . Mitochondrial dysfunction and neuromuscular disease . Muscle Nerve . 2001;24:170–191
  14. Chang TM , Chi CS , Tsai CR , et al.   Paralytic ileus in MELAS with phenotypic features of MNGIE . Pediatr Neurol . 2004;31:374–377
  15. Hiel JA , Verrips A , Keyser A , et al.   Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes . Neth J Med . 1998;53:27–31
  16. Chinnery PF , Howell N , Lightowlers RN , Turnbull DM . Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes . Brain . 1997;120:1713–1721
  17. Okajima Y , Tanabe Y , Takayanagi M , Aotsuka H . A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) . Heart . 1998;80:292–295
  18. Lev D , Nissenkorn A , Leshinsky-Silver E , et al.   Clinical presentations of mitochondrial cardiomyopathies . Pediatr Cardiol . 2004;25:443–450
  19. DiMauro S , Davidzon G . Mitochondrial DNA and disease . Ann Med . 2005;37:222–232
  20. Lien LM , Lee HC , Wang KL , et al.   Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA . Acta Neurol Scand . 2001;103:159–165
  21. Rosen L , Phillips S , Enzmann D . Magnetic resonance imaging in MELAS syndrome . Neuroradiology . 1990;32:168–171
  22. Miyamoto A , Oki J , Takahashi S , et al.   Serial imaging in MELAS . Neuroradiology . 1997;39:427–430
  23. Watanabe Y , Hashikawa K , Moriwaki H , et al.   SPECT findings in mitochondrial encephalomyopathy . J Nucl Med . 1998;39:961–964
  24. Valanne L , Ketonen L , Majander A , et al.   Neuroradiologic findings in children with mitochondrial disorders . AJNR Am J Neuroradiol . 1998;19:369–377
  25. Sano M , Ishii K , Momose Y , et al.   Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome . Acta Neurol Scand . 1995;92:497–502
  26. Larsson NG , Holme E , Kristiansson B , et al.   Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome . Pediatr Res . 1990;28:131–136
  27. Kawakami Y , Sakuta R , Hashimoto K , et al.   Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes . Ann Neurol . 1994;35:370–373
  28. Ohno K , Yamamoto M , Engel AG , et al.   MELAS- and Kearns-Sayre-type co–mutation with myopathy and autoimmune polyendocrinopathy . Ann Neurol . 1996;39:761–766
  29. Bidooki SK , Johnson MA , Chrzanowska-Lightowlers Z , et al.   Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes . Am J Hum Genet . 1997;60:1430–1438
  30. Arenas J , Campos Y , Bornstein B , et al.   A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged red fibers . Neurology . 1999;52:377–382

PII: S0929-6646(07)60003-5

doi: 10.1016/S0929-6646(07)60003-5

Journal of the Formosan Medical Association
Volume 106, Issue 7 , Pages 528-536 , 2007

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