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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.

Recently targeted disruption of Omi/HtrA2 has been found to cause neurodegeneration and a parkinsonian phenotype in mice. Using a candidate gene approach, we performed a mutation screening of the Omi/HtrA2 gene in German Parkinson's disease (PD) patients. In four patients, we identified a novel heterozygous G399S mutation, which was absent in healthy controls. Moreover, we identified a novel A141S polymorphism that was associated with PD (P<0.05). Both mutations resulted in defective activation of the protease activity of Omi/HtrA2. Immunohistochemistry and functional analysis in stably transfected cells revealed that S399 mutant Omi/HtrA2 and to a lesser extent, the risk allele of the A141S polymorphism induced mitochondrial dysfunction associated with altered mitochondrial morphology. Cells overexpressing S399 mutant Omi/HtrA2 were more susceptible to stress-induced cell death than wild-type. On the basis of functional genomics, our results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD.[1]

References

  1. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Strauss, K.M., Martins, L.M., Plun-Favreau, H., Marx, F.P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Müller, T., Bornemann, A., Wolburg, H., Downward, J., Riess, O., Schulz, J.B., Krüger, R. Hum. Mol. Genet. (2005) [Pubmed]
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