Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect

Human Mutation

Volumn 30, Issue 11, 2009, Pages 1551-1557

  Tan, Eng King ^a,b,c   Refai, F Shaffra ^a   Siddique, Mobin ^a   Yap, Karen ^a   Ho, Patrick ^a   Fook Chong, Stephanie ^a   Zhao, Yi ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^c DUKE NUS MEDICAL SCHOOL   (Singapore)

Author keywords

Haploinsufficiency; Parkinson; PD; PINK1

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PINK1; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; APOPTOSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL LINE; CELL LOSS; CELL SURVIVAL; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; GENE DOSAGE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IN VITRO STUDY; MITOCHONDRIAL MEMBRANE POTENTIAL; MOLECULAR CLONING; MUTATION; OXIDATIVE STRESS; PRIORITY JOURNAL;

APOPTOSIS; CELL LINE; CELL SURVIVAL; GENE DOSAGE; HETEROZYGOTE; HUMANS; MUTATION; OXIDATIVE STRESS; PROTEIN KINASES;

MAMMALIA;

EID: 70350731130     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21108     Document Type: Article

References (20)

1. Abou-Sleiman PM, Muqit MM, McDonald NQ, Yang YX, Gandhi S, Healy DG, Harvey K, Harvey RJ, Deas E, Bhatia K, Quinn N, Lees A, Latchman DS, Wood NW. 2006. A heterozygous effect for PINK1 mutations in Parkinson's disease? Ann Neurol 60:414-419.
2. Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, van Eimeren T, Thiel A, Büchel C, Pramstaller PP, Siebner HR, Klein C. 2007. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology 69:842-850. (Pubitemid 47329583)
3. Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, Yoo SJ, Hay BA, Guo M. 2006. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441:1162-1166. (Pubitemid 43990738)
4. Gegg ME, Cooper JM, Schapira AH, Taanman JW. 2009. Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. PLoS ONE 4:e4756.
5. Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G. 2008. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry 79:1071-1074.
6. Kessler KR, Hamscho N, Morales B, Menzel C, Barrero F, Vives F, Gispert S, Auburger G. 2005. Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome. J Neural Transm 112:1345-1353. (Pubitemid 41355962)
7. Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, Piccini P. 2002. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 52:849-853. (Pubitemid 35403199)
8. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. 2007. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 6:652-662. (Pubitemid 46921058)
9. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM, Italian PD Study Group. 2008. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29:565.
10. Mills RD, Sim CH, Mok SS, Mulhern TD, Culvenor JG, Cheng HC. 2008. Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1). J Neurochem 105:18-33.
11. Plun-Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, Harvey K, Deas E, Harvey RJ, McDonald N, Wood NW, Martins LM, Downward J. 2007. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol 9:1243-1252. (Pubitemid 350042356)
12. Pridgeon JW, Olzmann JA, Chin LS, Li L. 2007. PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. PLoS Biol 5:e17.
13. Rogaeva E, Johnson J, Lang AE, GulickC, Gwinn-Hardy K,Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. 2004. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 61:1898-1904. (Pubitemid 39612950)
14. Schapira AH. 2008. Mitochondria in the aetiology and pathogenesis of Parkinson's disease. Lancet Neurol 7:97-109. (Pubitemid 350251942)
15. Sim CH, Lio DS, Mok SS, Masters CL, Hill AF, Culvenor JG, Cheng HC. 2006. C-terminal truncation and Parkinson's disease-associated mutations downregulate the protein serine/threonine kinase activity of PTEN-induced kinase-1. Hum Mol Genet 15:3251-3262.
16. Tan EK, Skipper LM. 2007. Pathogenic mutations in Parkinson disease. Hum Mutat 28:641-653.
17. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. 2004. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-1160. (Pubitemid 38661852)
18. van Nuenen BF, Weiss MM, Bloem BR, Reetz K, van Eimeren T, Lohmann K, Hagenah J, Pramstaller PP, Binkofski F, Klein C, Siebner HR. 2009. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 72:1041-1047.
19. Yang Y, Gehrke S, Imai Y, Huang Z, Ouyang Y, Wang JW, Yang L, Beal MF, Vogel H, Lu B. 2006. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proc Natl Acad Sci USA 103:10793-10798. (Pubitemid 44078055)
20. Zadikoff C, Rogaeva E, Darmati A, Sato C, Saheli-Rad S, George-Hyslop PS, Klein C, Lang AE. 2006. Homozygous and heterozygous PINK1 mutations: con siderations for diagnosis and care of Parkinson's disease patients. Mov Disord 21:875-879. (Pubitemid 44028315)