PD Guide
PARK13 (Omi/HtrA2)
PARK13 was identified as a possible susceptibility factor through candidate gene studies of Omi/HtrA2, a mitochondrial, antiapoptotic serine protease (Strauss et al., 2005; Bogaerts et al., 2008). Mutations in the gene were reported to affect the protease function of Omi/HtrA2 resulting in possible mitochondrial dysfunction (Strauss et al., 2005). Omi/HtrA1 has also been suggested to be modulated by PINK1 (Plun-Favreau et al., 2007). However, despite initial findings, further studies have not widely confirmed the initial association of Omi/HtrA2 mutations to PD (Simón-Sánchez et al., 2008; Ross et al., 2008).
Reference:
Strauss KM, Martins ML, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet. 2005;14(15):2099-111.
Plun-Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, et al. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol. 2007;9(11):1243-52.
Bogaerts V, Nuytemans K, Reumers J, Pals P, Engelborghs S, Pickut B, et al. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. Hum Mutat. 2008;29(6):832-40.
Simón-Sánchez J, Singleton AB. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet. 2008;17(13):1988-93.
Ross OA, Soto AI, Vilariño-Güell C, Heckman MG, Diehl NN, Hulihan MM, et al. Genetic variation of Omi/HtrA2 and Parkinson's disease. Parkinsonism Relat Disord. 2008;14(7):539-43.
Responses:
Reference:
Plun-Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, et al. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol. 2007;9(11):1243-52.