The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

B. Sanjay Harhangi, Matthew J. Farrer, Sarah Lincoln, Vincenzo Bonifati, Giuseppe Meco, Giuseppe De Michele, Alexis Brice, Alexandra Dürr, Maria Martinez, Thomas Gasser, Benjamin Bereznai, Jenny R. Vaughan, Nicholas W. Wood, John Hardy, Ben A. Oostra, Monique M.B. Breteler

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61 Citations (Scopus)

Abstract

Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal- hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalNeuroscience Letters
Volume270
Issue number1
DOIs
Publication statusPublished - Jul 23 1999

Keywords

  • Candidate gene
  • Family studies
  • Genetics
  • Parkinson's disease
  • Ubiquitin-carboxy-terminal-hydrolase- L1

ASJC Scopus subject areas

  • Neuroscience(all)

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    Harhangi, B. S., Farrer, M. J., Lincoln, S., Bonifati, V., Meco, G., De Michele, G., Brice, A., Dürr, A., Martinez, M., Gasser, T., Bereznai, B., Vaughan, J. R., Wood, N. W., Hardy, J., Oostra, B. A., & Breteler, M. M. B. (1999). The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neuroscience Letters, 270(1), 1-4. https://doi.org/10.1016/S0304-3940(99)00465-6