THE ROLE OF PARK GENES FAMILY IN PARKINSON DISEASE
Parkinson Disease (PD) is a neurodegenerative disease associated with degeneration of dopaminergic neurons in the basal ganglia. Parkinson disease is the second most common neurodegenerative disorder, after Alzheimer disease (rev. in Chai and Lim, 2013). The analysis of prevalence studies showed
that there were 5 mln PD patients in 2005, and there is expected increase to
9.3 mln by 2030 (Dorsay et al., 2005). The main clinical indicators of PD are
bradykinesia, postural instability, muscle rigidity and resting tremor, good
L-dope response and asymmetrical clinical manifestation. There are two types of
the pathology such as sporadic and familial forms of PD. 95% of all cases rare
sporadic, which means there are no causes that promote the disease development.
This review article aims to focus on PARK family of genes that are associated
with Parkinson Disease development. It describes possible underlying mechanisms
and clinical manifestations of the genetically predetermined Parkinson Disease
form. To the present, there are huge amount of genes-candidates for PD but this
review focuses on genes that showed significant association on Genome Wide
Association Studies of PD genes as well as to describe briefly the clinical
manifestations of different familial PD forms
А. А. Аkanova
Semey State Medical University, Semey City, Kazakhstan
2-d year PhD-student on the specialty “Medicine”
References:
1. Albanese A., Valente E. M., Romito L. M., Bellacchio E., Elia A. E., Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease // Neurology. 2005. N. 64. P.1958-1960.
2. Bretscher A., Edwards K., Fehon R.G. ERM proteins and merlin: integrators at the cell cortex // Nature Review Molecular Cell Biology. 2002. N. 3(8). P.586–599.
3. Chartier-Harlin M.-C., Dachsel J. C., Vilarino-Guell C., Lincoln S. J., Lepretre F., Hulihan M. M., Kachergus J., Milnerwood A. J., Tapia L., Song M. S., Le Rhun E., Mutez E., and 38 others.Translation initiator EIF4G1 mutations in familial Parkinson disease // American Journal of Human Genetics. 2011. N. 89. P.398-406.
4. Chartier-Harlin M.C., Kachergus J., Roumier C., Mouroux V., Douay X., Lincoln S. et al. Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease // Lancet. 2004. N.364. P. 1167–1169.
5. Chou Chai and Kah-Leong Lim. Genetic Insights into Sporadic Parkinson's Disease Pathogenesis // Current Genomics. 2013. N. 14(8). P. 486–501.
6. Chung K. K., Zhang Y., Lim K. L., Tanaka Y., Huang H., Gao J. et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease // Nature Medicine. 2001. N7 (10). P. 1144–1150.
7. Cruts M., Theuns J., Van Broeckhoven C. Locus-specific mutation data bases for neurodegenerative brain diseases // Human Mutations. 2012 Sep. N 33(9). P. 1340-1344.
8. Daniel G. Healy, Mario Falchi, Sean S. O'Sullivan, Vincenzo Bonifati, Alexandra Durr, Susan Bressman, Alexis Brice, Jan Aasly, Cyrus P Zabetian, Stefano Goldwurm, Joaquim J Ferreira, Eduardo Tolosa, Denise M Kay, Christine Klein, David R Williams, Connie Marras, Anthony E Lang, Zbigniew K Wszolek, Jose Berciano, Anthony HV Schapira, Timothy Lynch, Kailash P Bhatia, Thomas Gasser, Andrew J Lees, Nicholas W Wood, and on behalf of the International LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study // Lancet Neurol. 2008. N.7(7). P. 583–590.
9. Cookson M.R. The biochemistry of Parkinson’s disease // Annual Review Biochemistry. 2005. N.74. P.29–52.
10. Dayne A. Beccano-Kelly, Naila Kuhlmann, Igor Tatarnikov, Mattia Volta, Lise N. Munsie, Patrick Chou, Li-Ping Cao, Heather Han, Lucia Tapia, Matthew J. Farrer and Austen J. Milnerwood. Synaptic function is modulated by LRRK2 and glutamate release is increased in cortical neurons of G2019S LRRK2 knock-in mice // Frontal Cellular Neuroscience. 2014. N. 8. P. 301.
11. Di Fonzo A., Dekker M.C, Montagna P, Baruzzi A., Yonova E.H., Correia Guedes L., Szczerbinska A., Zhao T., Dubbel-Hulsman L.O., Wouters C.H., de Graaff E., Oyen W.J., Simons E.J., Breedveld G.J., Oostra B.A., Horstink M.W., Bonifati V.FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome // Neurology. 2009. N. 20;72(3). P.240-245.
12. Dodson M.W., Leung Lok K., Mohiddin Lone, Lizzio Michael A., and Ming Guo. Novel ethyl methanesulfonate (EMS)-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo // Disease Model Mechanisms. 2014. N.7(12). P.1351–1363.
13. Dorsey E.R., Constantinescu R., Thompson J.P., Biglan K.M, Holloway R.G., Kieburtz K., Marshall F.J., Ravina B.M., Schifitto G., Siderowf A., Tanner C.M. // Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. // Neurology. 2007. N. 68(5). P. 384–386.
14. Hatano Y., Sato K., Elibol B., Yoshino H., Yamamura Y., Bonifati V., Shinotoh H., Asahina M., Kobayashi S., Ng A. R., Rosales R. L., Hassin-Baer S. and 9 others. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations // Neurology. 2004 N.63. P. 1482-1485.
15. Hedrich K., Djarmati A., Schafer N., Hering R., Wellenbrock C., Weiss P.H., Hilker R., Vieregge P., Ozelius L.J., Heutink P., Bonifati V., Schwinger E., Lang A. E., Noth J., Bressman S. B., Pramstaller P.P., Riess O., Klein C. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease // Neurology. 2004. N.62(3). P.389–394.
16. Huynh D. P., Scoles D. R., Nguyen D., Pulst S. M. The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinatessynaptotagmin XI // Human Molecular Genetics. 2003. N12 (20). P. 2587–2597.
17. Kilarski L. L., Pearson J. P., Newsway V., Majounie E., Knipe M. D., Misbahuddin A., Chinnery P. F., Burn D. J., Clarke C. E., Marion M. H., Lewthwaite A. J., Nicholl D. J., Wood N. W., Morrison K. E., Williams-Gray C. H., Evans J. R., Sawcer S. J., Barker R. A., Wickremaratchi M. M., Ben-Shlomo Y., Williams N. M., Morris H. R. Systematic Review and UK-Based Study of PARK2 (parkin): PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease // Movement Disorders. 2012. N.27(12). P. 1522–1529.
18. Kim H. R., Patrice D. Aleyasin, Hossein Hayley Shawn, Matthew P. Mount, Pownall Scott, Wakeham Andrew, Annick J. You-Ten, Suneil K. Kalia, Patrick Horne, Westaway, David, Lozano, Andres M. Hymie Anisman, David S. Park and Tak W. Mak Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydro-pyrindine (MPTP) and oxidative stress // Proceedings of the National Academy of Sciences of the United States of America. 2005. N:102(14). P. 5215–5220.
19. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism // Nature. 1998. N392 (6676). P. 605–608.
20. Kruger R., Kuhn W., Leenders K.L., Sprengelmeyer R., Muller T., Woitalla D. et al. Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers // Neurology. 2001. N.56. P.1355–1362.
21. Kumazawa R., Tomiyama H., Li Y., Imamichi Y., Funayama M., Yoshino H., Yokochi F., Fukusako T., Takehisa Y., Kashihara K., Kondo T., Elibol B., Bostantjopoulou S., Toda T., Takahashi H., Yoshii F., Mizuno Y., Hattori N. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease // Archives Neurology. 2008. N. 65. P. 802-808.
22. Lesage S., Anheim M., Letournel F., Bousset L., Honore A., Rozas N., Pieri L., Madiona K., Durr A., Melki R., Verny C., Brice A. G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome // Annual Neurology. 2013. N.73. P.459-471.
23. Lin X., Parisiadou L., Gu X.-L., Wang L., Shim H., Sun L., Xie C., Long C.-X., Yang W.-J. Ding J. et al. Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson’s-Disease-Related Mutant a-synuclein // Neuron. 2009. N.63. P.807-827.
24. Matsumine H, Yamamura Y, Hattori N, Kobayashi T, Kitada T, Yoritaka A et al. A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2) // Genomics. 1998. N49 (1). P. 143–146.
25. Parsanejad Mohammad, Bourquard Noam, Dianbo Qu, ZhangYi, Huang En, Maxime Rousseaux W. C., Aleyasin Hossein, Irrcher Isabella Steve, Dominique C. Vaillant, Raymond H. Kim, Ruth S. Slack, Tak W. Mak, Srinivasa T. Reddy, Figeys Daniel and Park David S. DJ-1 Interacts with and Regulates Paraoxonase-2, an Enzyme Critical for Neuronal Survival in Response to Oxidative Stress // Public Library of Science One. 2014. N 9(9): e106601.
26. Pankratz N., Nichols W. C., Uniacke S. K., Halter C., Murrell J., Rudolph A., Shults C. W., Conneally P. M., Foroud T., Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families // Human Molecular Genetics. 2003. N.12. P. 2599-2608.
27. Polymeropoulos M. H., Lavedan C., Leroy E., Ide S. E., Dehejia A., Dutra A. et al. Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease // Science. 1997. N.276. P.2045–2047.
28. Poole A. C., Thomas R. E., Andrews L. A., McBride H. M., Whitworth A. J., Pallanck L. J. The PINK1/Parkin pathway regulates mitochondrial morphology // Proceedings of the National Academy of Sciences of the United States of America. 2008. N 105. P.1638-1643.
29. Takahashi H., Ohama E., Suzuki S., Horikawa Y., Ishikawa A., Morita T., Tsuji S., Ikuta F. Familial juvenile parkinsonism: clinical and pathologic study in a family // Neurology. 1994. N. 44.P. 437-441.
30. Shojaee S., Sina F., Banihosseini S. S., Kazemi M. H., Kalhor R., Shahidi G.-A., Fakhrai-Rad H., Ronaghi M., Elahi E. Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays // American Journal of Human Genetics. 2008. N. 82. P.1375-1384.
31. Schulz J. B., Falkenburger B. H. Neuronal pathology in Parkinson’s disease // Cell Tissue Res. 2004. N. 318(1) P.135–147.
32. Shyu W. C., Lin S. Z., Chiang M. F., Pang C. Y., Chen S. Y., Hsin Y. L., Thajeb P., Lee Y. J., Li H. Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study // Parkinsonism Related Disorders. 2005. N.11(3). P.173–180.
33. Singleton A. B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J. et al. alpha-Synuclein locus triplication causes Parkinson’s disease // Science. 2003. N.302. P.841.
34. van Duijn C. V., M.C.J. Dekker V., Bonifati R. J., Galjaard J. J., Houwing-Duistermaat Snijders P. J., Breedveld G. J., Horstink M., Sandkuijl L. A., Swieten J. C. van, B. A. Oostra, and P. Heutink PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36 // American Journal of Human Genetics. 2001. N 69(3). P. 629–634.
35. Valente E. M., Bentivoglio A. R., Dixon P. H., Ferraris A., Ialongo T., Frontali M., Albanese A. Wood N. W. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 // American Journal of Human Genetics. 2001. N. 68. P. 895-900.
36. Wider C., Skipper L., Solida A., Brown L., Farrer M., Dickson, D., Wszolek Z.K., Vingerhoets F.J.G. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family // Parkinsonism Related Disorders. 2008. N.14. P. 465-470.
37. Yu F., Zhou J. Parkin is ubiquitinated by Nrdp1 and abrogates Nrdp1-induced oxidative stress // Neuroscience Letters. 2008 N440 (1). P. 4–8.
38. Zarranz J. J., Alegre J., Gomez-Esteban J. C., Lezcano E., Ros R., Ampuero I. et al. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia // Annals of neurology. 2004. N.55. P.164–173.
39. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R. J., Calne D.B., Stoessl A.J., Pfeiffer R.F., Patenge N, Carbajal I.C., Vieregge P., Asmus F., Muller-Myhsok B., Dickson D. W., Meitinger T, Strom TM, Wszolek ZK, Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology // Neuron. 2004. N.44(4). P.601–607.
40. Zimprich A., Benet-Pages A., Struhal W., Graf E., Eck S. H., Offman M. N., Haubenberger D., Spielberger S., Schulte, E.C., Lichtner, P., Rossle S. C., Klopp N., and 22 others. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease // America Journal of Human Genetics. 2011. N. 89. P. 168-175.
1. Albanese A., Valente E. M., Romito L. M., Bellacchio E., Elia A. E., Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease // Neurology. 2005. N. 64. P.1958-1960.
2. Bretscher A., Edwards K., Fehon R.G. ERM proteins and merlin: integrators at the cell cortex // Nature Review Molecular Cell Biology. 2002. N. 3(8). P.586–599.
3. Chartier-Harlin M.-C., Dachsel J. C., Vilarino-Guell C., Lincoln S. J., Lepretre F., Hulihan M. M., Kachergus J., Milnerwood A. J., Tapia L., Song M. S., Le Rhun E., Mutez E., and 38 others.Translation initiator EIF4G1 mutations in familial Parkinson disease // American Journal of Human Genetics. 2011. N. 89. P.398-406.
4. Chartier-Harlin M.C., Kachergus J., Roumier C., Mouroux V., Douay X., Lincoln S. et al. Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease // Lancet. 2004. N.364. P. 1167–1169.
5. Chou Chai and Kah-Leong Lim. Genetic Insights into Sporadic Parkinson's Disease Pathogenesis // Current Genomics. 2013. N. 14(8). P. 486–501.
6. Chung K. K., Zhang Y., Lim K. L., Tanaka Y., Huang H., Gao J. et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease // Nature Medicine. 2001. N7 (10). P. 1144–1150.
7. Cruts M., Theuns J., Van Broeckhoven C. Locus-specific mutation data bases for neurodegenerative brain diseases // Human Mutations. 2012 Sep. N 33(9). P. 1340-1344.
8. Daniel G. Healy, Mario Falchi, Sean S. O'Sullivan, Vincenzo Bonifati, Alexandra Durr, Susan Bressman, Alexis Brice, Jan Aasly, Cyrus P Zabetian, Stefano Goldwurm, Joaquim J Ferreira, Eduardo Tolosa, Denise M Kay, Christine Klein, David R Williams, Connie Marras, Anthony E Lang, Zbigniew K Wszolek, Jose Berciano, Anthony HV Schapira, Timothy Lynch, Kailash P Bhatia, Thomas Gasser, Andrew J Lees, Nicholas W Wood, and on behalf of the International LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study // Lancet Neurol. 2008. N.7(7). P. 583–590.
9. Cookson M.R. The biochemistry of Parkinson’s disease // Annual Review Biochemistry. 2005. N.74. P.29–52.
10. Dayne A. Beccano-Kelly, Naila Kuhlmann, Igor Tatarnikov, Mattia Volta, Lise N. Munsie, Patrick Chou, Li-Ping Cao, Heather Han, Lucia Tapia, Matthew J. Farrer and Austen J. Milnerwood. Synaptic function is modulated by LRRK2 and glutamate release is increased in cortical neurons of G2019S LRRK2 knock-in mice // Frontal Cellular Neuroscience. 2014. N. 8. P. 301.
11. Di Fonzo A., Dekker M.C, Montagna P, Baruzzi A., Yonova E.H., Correia Guedes L., Szczerbinska A., Zhao T., Dubbel-Hulsman L.O., Wouters C.H., de Graaff E., Oyen W.J., Simons E.J., Breedveld G.J., Oostra B.A., Horstink M.W., Bonifati V.FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome // Neurology. 2009. N. 20;72(3). P.240-245.
12. Dodson M.W., Leung Lok K., Mohiddin Lone, Lizzio Michael A., and Ming Guo. Novel ethyl methanesulfonate (EMS)-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo // Disease Model Mechanisms. 2014. N.7(12). P.1351–1363.
13. Dorsey E.R., Constantinescu R., Thompson J.P., Biglan K.M, Holloway R.G., Kieburtz K., Marshall F.J., Ravina B.M., Schifitto G., Siderowf A., Tanner C.M. // Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. // Neurology. 2007. N. 68(5). P. 384–386.
14. Hatano Y., Sato K., Elibol B., Yoshino H., Yamamura Y., Bonifati V., Shinotoh H., Asahina M., Kobayashi S., Ng A. R., Rosales R. L., Hassin-Baer S. and 9 others. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations // Neurology. 2004 N.63. P. 1482-1485.
15. Hedrich K., Djarmati A., Schafer N., Hering R., Wellenbrock C., Weiss P.H., Hilker R., Vieregge P., Ozelius L.J., Heutink P., Bonifati V., Schwinger E., Lang A. E., Noth J., Bressman S. B., Pramstaller P.P., Riess O., Klein C. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease // Neurology. 2004. N.62(3). P.389–394.
16. Huynh D. P., Scoles D. R., Nguyen D., Pulst S. M. The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinatessynaptotagmin XI // Human Molecular Genetics. 2003. N12 (20). P. 2587–2597.
17. Kilarski L. L., Pearson J. P., Newsway V., Majounie E., Knipe M. D., Misbahuddin A., Chinnery P. F., Burn D. J., Clarke C. E., Marion M. H., Lewthwaite A. J., Nicholl D. J., Wood N. W., Morrison K. E., Williams-Gray C. H., Evans J. R., Sawcer S. J., Barker R. A., Wickremaratchi M. M., Ben-Shlomo Y., Williams N. M., Morris H. R. Systematic Review and UK-Based Study of PARK2 (parkin): PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease // Movement Disorders. 2012. N.27(12). P. 1522–1529.
18. Kim H. R., Patrice D. Aleyasin, Hossein Hayley Shawn, Matthew P. Mount, Pownall Scott, Wakeham Andrew, Annick J. You-Ten, Suneil K. Kalia, Patrick Horne, Westaway, David, Lozano, Andres M. Hymie Anisman, David S. Park and Tak W. Mak Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydro-pyrindine (MPTP) and oxidative stress // Proceedings of the National Academy of Sciences of the United States of America. 2005. N:102(14). P. 5215–5220.
19. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism // Nature. 1998. N392 (6676). P. 605–608.
20. Kruger R., Kuhn W., Leenders K.L., Sprengelmeyer R., Muller T., Woitalla D. et al. Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers // Neurology. 2001. N.56. P.1355–1362.
21. Kumazawa R., Tomiyama H., Li Y., Imamichi Y., Funayama M., Yoshino H., Yokochi F., Fukusako T., Takehisa Y., Kashihara K., Kondo T., Elibol B., Bostantjopoulou S., Toda T., Takahashi H., Yoshii F., Mizuno Y., Hattori N. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease // Archives Neurology. 2008. N. 65. P. 802-808.
22. Lesage S., Anheim M., Letournel F., Bousset L., Honore A., Rozas N., Pieri L., Madiona K., Durr A., Melki R., Verny C., Brice A. G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome // Annual Neurology. 2013. N.73. P.459-471.
23. Lin X., Parisiadou L., Gu X.-L., Wang L., Shim H., Sun L., Xie C., Long C.-X., Yang W.-J. Ding J. et al. Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson’s-Disease-Related Mutant a-synuclein // Neuron. 2009. N.63. P.807-827.
24. Matsumine H, Yamamura Y, Hattori N, Kobayashi T, Kitada T, Yoritaka A et al. A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2) // Genomics. 1998. N49 (1). P. 143–146.
25. Parsanejad Mohammad, Bourquard Noam, Dianbo Qu, ZhangYi, Huang En, Maxime Rousseaux W. C., Aleyasin Hossein, Irrcher Isabella Steve, Dominique C. Vaillant, Raymond H. Kim, Ruth S. Slack, Tak W. Mak, Srinivasa T. Reddy, Figeys Daniel and Park David S. DJ-1 Interacts with and Regulates Paraoxonase-2, an Enzyme Critical for Neuronal Survival in Response to Oxidative Stress // Public Library of Science One. 2014. N 9(9): e106601.
26. Pankratz N., Nichols W. C., Uniacke S. K., Halter C., Murrell J., Rudolph A., Shults C. W., Conneally P. M., Foroud T., Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families // Human Molecular Genetics. 2003. N.12. P. 2599-2608.
27. Polymeropoulos M. H., Lavedan C., Leroy E., Ide S. E., Dehejia A., Dutra A. et al. Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease // Science. 1997. N.276. P.2045–2047.
28. Poole A. C., Thomas R. E., Andrews L. A., McBride H. M., Whitworth A. J., Pallanck L. J. The PINK1/Parkin pathway regulates mitochondrial morphology // Proceedings of the National Academy of Sciences of the United States of America. 2008. N 105. P.1638-1643.
29. Takahashi H., Ohama E., Suzuki S., Horikawa Y., Ishikawa A., Morita T., Tsuji S., Ikuta F. Familial juvenile parkinsonism: clinical and pathologic study in a family // Neurology. 1994. N. 44.P. 437-441.
30. Shojaee S., Sina F., Banihosseini S. S., Kazemi M. H., Kalhor R., Shahidi G.-A., Fakhrai-Rad H., Ronaghi M., Elahi E. Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays // American Journal of Human Genetics. 2008. N. 82. P.1375-1384.
31. Schulz J. B., Falkenburger B. H. Neuronal pathology in Parkinson’s disease // Cell Tissue Res. 2004. N. 318(1) P.135–147.
32. Shyu W. C., Lin S. Z., Chiang M. F., Pang C. Y., Chen S. Y., Hsin Y. L., Thajeb P., Lee Y. J., Li H. Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study // Parkinsonism Related Disorders. 2005. N.11(3). P.173–180.
33. Singleton A. B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J. et al. alpha-Synuclein locus triplication causes Parkinson’s disease // Science. 2003. N.302. P.841.
34. van Duijn C. V., M.C.J. Dekker V., Bonifati R. J., Galjaard J. J., Houwing-Duistermaat Snijders P. J., Breedveld G. J., Horstink M., Sandkuijl L. A., Swieten J. C. van, B. A. Oostra, and P. Heutink PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36 // American Journal of Human Genetics. 2001. N 69(3). P. 629–634.
35. Valente E. M., Bentivoglio A. R., Dixon P. H., Ferraris A., Ialongo T., Frontali M., Albanese A. Wood N. W. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 // American Journal of Human Genetics. 2001. N. 68. P. 895-900.
36. Wider C., Skipper L., Solida A., Brown L., Farrer M., Dickson, D., Wszolek Z.K., Vingerhoets F.J.G. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family // Parkinsonism Related Disorders. 2008. N.14. P. 465-470.
37. Yu F., Zhou J. Parkin is ubiquitinated by Nrdp1 and abrogates Nrdp1-induced oxidative stress // Neuroscience Letters. 2008 N440 (1). P. 4–8.
38. Zarranz J. J., Alegre J., Gomez-Esteban J. C., Lezcano E., Ros R., Ampuero I. et al. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia // Annals of neurology. 2004. N.55. P.164–173.
39. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R. J., Calne D.B., Stoessl A.J., Pfeiffer R.F., Patenge N, Carbajal I.C., Vieregge P., Asmus F., Muller-Myhsok B., Dickson D. W., Meitinger T, Strom TM, Wszolek ZK, Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology // Neuron. 2004. N.44(4). P.601–607.
40. Zimprich A., Benet-Pages A., Struhal W., Graf E., Eck S. H., Offman M. N., Haubenberger D., Spielberger S., Schulte, E.C., Lichtner, P., Rossle S. C., Klopp N., and 22 others. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease // America Journal of Human Genetics. 2011. N. 89. P. 168-175.
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Bibliography link
Akanova A.A. The role of PARK genes family in Parkinson disease. Nauka i Zdravoohranenie [Science & Healthcare]. 2015, 3, pp. 29-36.
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