Skip to main content
SpringerLink
Log in

Investigation on the mitochondrial transfer RNALeu(UUR) in blood cells from patients with cluster headache

  • Original Communication
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

Various mutations in the mitochondrial tRNALeu(UUR) gene give rise to a variety of neurological disorders. Among these, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) are frequently associated with a tRNALeu(UUR) mutation at nucleotide position 3243 of the mitochondrial DNA. A supplementary clinical feature seen in these patients is headache in early life. Recently, a tRNALeu(UUR) mutation at nucleotide position 3243 has been found in a patient presenting with cluster headache. This led us to examine the mitochondrial genomes of 22 patients presenting with cluster headache. None of the patients harboured the reported tRNALeu(UUR) mutation or any other length variations of the mtDNA. Cluster headache is most likely not causally associated with the A3243G mutation of the mitochondrial DNA.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Cortelli P, Zacchini A, Barboni P, Malpassi P, Carelli V, Montagna P (1995) Lack of association between mitochondrial tRNALeu(UUR) point mutation and cluster headache. Lancet 345:1120–1121

    Google Scholar 

  2. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651–653

    Google Scholar 

  3. Goto Y, Nonaka I, Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1097:238–240

    Google Scholar 

  4. Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I (1992) A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 31:672–675

    Google Scholar 

  5. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP (1992) Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 2:125–135

    Google Scholar 

  6. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428–433

    Google Scholar 

  7. Lauber J, Marsac C, Kadenbach B, Seibel P (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 19:1393–1397

    Google Scholar 

  8. Seibel P, Degoul F, Bonne G, Romero N, Francois D, Paturneau Jouas M, Ziegler F, Eymard B, Fardeau M, Marsac C, Kadenbach B (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 105:217–224

    Google Scholar 

  9. Seibel P, Mell O, Hannemann A, Müller-Hacker J, Kadenbach B (1991) A method for quantitative analysis of deleted mitochondrial DNA by PCR in small tissue samples. Methods Mol Cell Biol 2:147–153

    Google Scholar 

  10. Seibel P, Flierl A, Kottlors M, Reichmann H (1994) A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies. Biochem Biophys Res Commun 200:938–942

    Google Scholar 

  11. Shimomura T, Kitano A, Marukawa H, Mishima K, Isoe K, Adachi Y, Takahashi K (1994) Point mutation in platelet mitochondrial tRNA(Leu(UUR)) in a patient with cluster headache. Lancet 344:625

    Google Scholar 

  12. Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC (1989) Spontaneous KearnsSayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slipreplication model and metabolic therapy. Proc Natl Acad Sci USA 86:7952–7956

    Google Scholar 

  13. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and raggedred fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61:931–937

    Google Scholar 

  14. Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V, DiDonato S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338:143–147

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurology, University of Dresden, H. Fetscher Str. 74, D-01307, Dresden, Germany

    Peter Seibel, Thomas Grünewald & Heinz Reichmann

  2. Department of Neurology, University of Essen, Essen, Germany

    Astrid Gundolla & Hans Christoph Diener

Authors
  1. Peter Seibel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Thomas Grünewald
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Astrid Gundolla
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Hans Christoph Diener
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Heinz Reichmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Seibel, P., Grünewald, T., Gundolla, A. et al. Investigation on the mitochondrial transfer RNALeu(UUR) in blood cells from patients with cluster headache. J Neurol 243, 305–307 (1996). https://doi.org/10.1007/BF00868402

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00868402

Key words

Search

Navigation