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1. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

Author

Vollstedt, Eva-Juliane, primary, Madoev, Harutyun, additional, Aasly, Anna, additional, Ahmad-Annuar, Azlina, additional, Al-Mubarak, Bashayer, additional, Alcalay, Roy N., additional, Alvarez, Victoria, additional, Amorin, Ignacio, additional, Annesi, Grazia, additional, Arkadir, David, additional, Bardien, Soraya, additional, Barker, Roger A., additional, Barkhuizen, Melinda, additional, Basak, A. Nazli, additional, Bonifati, Vincenzo, additional, Boon, Agnita, additional, Brighina, Laura, additional, Brockmann, Kathrin, additional, Carmine Belin, Andrea, additional, Carr, Jonathan, additional, Clarimon, Jordi, additional, Cornejo-Olivas, Mario, additional, Correia Guedes, Leonor, additional, Corvol, Jean-Christophe, additional, Crosiers, David, additional, Damásio, Joana, additional, Das, Parimal, additional, de Carvalho Aguiar, Patricia, additional, De Rosa, Anna, additional, Dorszewska, Jolanta, additional, Ertan, Sibel, additional, Ferese, Rosangela, additional, Ferreira, Joaquim, additional, Gatto, Emilia, additional, Genç, Gençer, additional, Giladi, Nir, additional, Gómez-Garre, Pilar, additional, Hanagasi, Hasmet, additional, Hattori, Nobutaka, additional, Hentati, Faycal, additional, Hoffman-Zacharska, Dorota, additional, Illarioshkin, Sergey N., additional, Jankovic, Joseph, additional, Jesús, Silvia, additional, Kaasinen, Valtteri, additional, Kievit, Anneke, additional, Klivenyi, Peter, additional, Kostic, Vladimir, additional, Koziorowski, Dariusz, additional, Kühn, Andrea A., additional, Lang, Anthony E., additional, Lim, Shen-Yang, additional, Lin, Chin-Hsien, additional, Lohmann, Katja, additional, Markovic, Vladana, additional, Martikainen, Mika Henrik, additional, Mellick, George, additional, Merello, Marcelo, additional, Milanowski, Lukasz, additional, Mir, Pablo, additional, Öztop-Çakmak, Özgür, additional, Pimentel, Márcia Mattos Gonçalves, additional, Pulkes, Teeratorn, additional, Puschmann, Andreas, additional, Rogaeva, Ekaterina, additional, Sammler, Esther M., additional, Skaalum Petersen, Maria, additional, Skorvanek, Matej, additional, Spitz, Mariana, additional, Suchowersky, Oksana, additional, Tan, Ai Huey, additional, Termsarasab, Pichet, additional, Thaler, Avner, additional, Tumas, Vitor, additional, Valente, Enza Maria, additional, van de Warrenburg, Bart, additional, Williams-Gray, Caroline H., additional, Wu, Ruey-Mei, additional, Zhang, Baorong, additional, Zimprich, Alexander, additional, Solle, Justin, additional, Padmanabhan, Shalini, additional, and Klein, Christine, additional

Published
2023
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5. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study

Author

Elbaz, Alexis, Nelson, Lorene M, Payami, Haydeh, Ioannidis, John PA, Fiske, Brian K, Annesi, Grazia, Carmine Belin, Andrea, Factor, Stewart A, Ferrarese, Carlo, Hadjigeorgiou, Georgios M, Higgins, Donald S, Kawakami, Hideshi, Krüger, Rejko, Marder, Karen S, Mayeux, Richard P, Mellick, George D, Nutt, John G, Ritz, Beate, Samii, Ali, Tanner, Caroline M, Van Broeckhoven, Christine, Van Den Eeden, Stephen K, Wirdefeldt, Karin, Zabetian, Cyrus P, Dehem, Marie, Montimurro, Jennifer S, Southwick, Audrey, Myers, Richard M, and Trikalinos, Thomas A

Published
2006
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9. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Author

Heckman, Michael G, Elbaz, Alexis, Brighina, Laura, Pastor, Pao, Payami, Haydeh, Pchelina, Sofya N, Petersen, Maria Skaalum, Puschmann, Andrea, Ritz, Beate, Rogaeva, Ekaterina, Sazci, Ali, Slawek, Jaroslaw, Stefanis, Leonidas, Chartier-Harlin, Marie-Christine, Tan, Eng-King, Toda, Tatsushi, Toft, Mathias, Van Broeckhoven, Christine, Wirdefeldt, Karin, Woitalla, Dirk, Wszolek, Zbigniew K, Zimprich, Alexander, Dardiotis, Efthimios, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Fiske, Brian, Gispert, Suzana, Hadjigeorgiou, Georgios M, Hattori, Nobutaka, Soto-Ortolaza, Alexandra I, Ioannidis, John P A, Jasinska-Myga, Barbara, Jeon, Beom S, Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lin, Chin-Hsien, Lohmann, Katja, Loriot, Marie-Anne, Serie, Daniel J, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Opala, Grzegorz, Park, Sung Sup, Petrucci, Simona, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A, Sohn, Young Ho, Aasly, Jan O, Tadic, Vera, Tomiyama, Hiroyuki, Uitti, Ryan J, Valente, Enza Maria, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Annesi, Grazia, Wu, Ruey-Meei, Xiromerisiou, Georgia, Maraganore, Demetrius M, Farrer, Matthew J, Ross, Owen A, Disease, Genetic Epidemiology Of Parkinson's, Auburger, Georg, Ioannidis, John P, Annesi, Grazie, Bentivoglio, Annarita, Bozi, Maria, Brice, Alexis, Carmine-Belin, Andrea, Carr, Jonathan, Bacon, Justin A, Carroll, Camille, Chase, Bruce, Checkoway, Harvey, Chen, Sheng-Di, Chung, Sun Ju, Cosentino, Carlos, Cresswell, Silke, Deutschlaender, Angela, Boczarska-Jedynak, Magdalena, Foroud, Tatiana, Garraux, Gaëtan, Goldwurm, Stefano, Hadjigeorgiou, George, Jeon, Beom Seok, Kawakami, Hideshi, Kishore, Asha, Krainc, Dimitri, Krygowska-Wajs, Anna, Lay-Son, Luis, Lin, Jeui-Jueng, Mellick, George, Morrison, Karen E, Munhoz, Renato P, Okubadejo, Njide U, Van Broeckhoven, Christine, Heckman, M, Elbaz, A, Soto Ortolaza, A, Serie, D, Aasly, J, Annesi, G, Auburger, G, Bacon, J, Boczarska Jedynak, M, Bozi, M, Brighina, L, Chartier Harlin, M, Dardiotis, E, Destée, A, Ferrarese, C, Ferraris, A, Fiske, B, Gispert, S, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lin, C, Lohmann, K, Loriot, M, Lynch, T, Mellick, G, Mutez, E, Opala, G, Park, S, Petrucci, S, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Tomiyama, H, Uitti, R, Valente, E, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Xiromerisiou, G, Maraganore, D, Farrer, M, and Ross, O

Subjects
Male, Aging, Parkinson's disease, european continental ancestry group, chemistry.chemical_compound, genetics [Parkinson Disease], Genotype, 80 and over, MAPT, genetics, genetics [Genetic Predisposition to Disease], Genetics, Aged, 80 and over, biology, General Neuroscience, LRRK2, Parkinson Disease, Middle Aged, Protein-Serine-Threonine Kinases, genetics [European Continental Ancestry Group], genetics [alpha-Synuclein], alpha-Synuclein, Medical genetics, Female, interaction, lrrk2, mapt, parkinson's disease, snca, adolescent, adult, aged, aged, 80 and over, asian continental ancestry group, female, genetic predisposition to disease, genotype, haplotypes, humans, leucine-rich repeat serine-threonine protein kinase-2, male, middle aged, parkinson disease, protein-serine-threonine kinases, risk, young adult, alpha-synuclein, tau proteins, genetic variation, Adult, Risk, medicine.medical_specialty, Interaction, Adolescent, Tau protein, MAPT protein, human, tau Proteins, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetics [Protein-Serine-Threonine Kinases], White People, Article, Young Adult, Genetic, Asian People, Genetic variation, genetics [Haplotypes], medicine, Humans, Genetic Predisposition to Disease, ddc:610, LRRK2 protein, human, SNCA protein, human, Biology, Aged, Alpha-synuclein, genetics [Asian Continental Ancestry Group], Haplotype, Genetic Variation, medicine.disease, nervous system diseases, genetics [tau Proteins], Haplotypes, chemistry, biology.protein, prevention & control [Parkinson Disease], SNCA, Neurology (clinical), Human medicine, Geriatrics and Gerontology, Developmental Biology
Abstract

The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H across MAPT and SNCA variant genotypes has not been assessed. To address this, we examined 4 SNCA variants (rs181489, rs356219, rs11931074, and rs2583988), the MAPT H1-haplotypedefining variant rs1052553, and LRRK2 p.R1398H (rs7133914) in Caucasian (n = 10,322) and Asian (n = 2289) series. There was no evidence of an interaction of LRRK2 p.R1398H with MAPT or SNCA variants (all p ≥ 0.10); the protective effect of p.R1398H was observed at similar magnitude across MAPT and SNCA genotypes, and the risk effects of MAPT and SNCA variants were observed consistently for LRRK2 p.R1398H genotypes. Our results indicate that the association of LRRK2 p.R1398H with Parkinson's disease is independent of SNCA and MAPT variants, and vice versa, in Caucasian and Asian populations.

Published
2014

10. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Author

Theuns, Jessie, Verstraeten, Aline, Krüger, Rejko, Puschmann, Andrea, Ritz, Beate, Rogaeva, Ekaterina, Sazci, Ali, Slawek, Jaroslaw, Stefanis, Leonidas, Tan, Eng-King, Toda, Tatsushi, Toft, Matthias, Van Broeckhoven, Christine, Lesage, Suzanne, Wirdefeldt, Karin, Woitalla, Dirk, Wszolek, Zbigniew K, Zimprich, Alexander, Brice, Alexis, Chung, Sun Ju, Kim, Mi-Jung, Kim, Young Jin, Ross, Owen A, Xi, Zhengrui, Sleegers, Kristel, Lang, Anthony E, Klein, Christine, Weissbach, Anne, Mellick, George D, Silburn, Peter A, Hadjigeorgiou, Georgios M, Dardiotis, Efthimios, Hattori, Nobutaka, Ogaki, Kotaro, Wauters, Eline, Zhao, Yi, Aasly, Jan, Valente, Enza Maria, Petrucci, Simona, Annesi, Grazia, Quattrone, Aldo, Ferrarese, Carlo, Brighina, Laura, Deutschländer, Angela, Puschmann, Andreas, Gijselinck, Ilse, Nilsson, Christer, Garraux, Gaëtan, LeDoux, Mark S, Pfeiffer, Ronald F, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Maraganore, Demetrius M, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Smolders, Stefanie, Cruts, Marc, Consortium, GEO-PD, Farrer, Matthew J, Aasly, Jan O, Elbaz, Alexis, Ioannidis, John P, Annesi, Grazie, Crosiers, David, Bozi, Maria, Curie, Marie, Carmine-Belin, Andrea, Carr, Jonathan, Carroll, Camille, Chen, Sheng-Di, Cosentino, Carlos, Cresswell, Silke, Corsmit, Ellen, Deutschlaender, Angela, Foroud, Tatiana, Goldwurm, Stefano, Hadjigeorgiou, George, Chartier-Harlin, Marie-Christine, Hassan, Anhar, Hentati, Faycal, Elinck, Ellen, Jeon, Beom Seok, Kawakami, Hideshi, Kim, Yun Joong, Kishore, Asha, Koks, Sulev, Krainc, Dimitri, Krygowska-Wajs, Anna, Lin, Juei-Jueng, Lynch, Tim, Sharma, Manu, Mellick, George, Morrison, Karen E, Munhoz, Renato P, Pastor, Pao, Payami, Haydeh, Pchelina, Sofya N, Petersburg, Saint, Petersen, Maria Skaalum, Theuns, J, Verstraeten, A, Sleegers, K, Wauters, E, Gijselinck, I, Smolders, S, Crosiers, D, Corsmit, E, Elinck, E, Sharma, M, Krüger, R, Lesage, S, Brice, A, Chung, S, Kim, M, Kim, Y, Ross, O, Wszolek, Z, Rogaeva, E, Xi, Z, Lang, A, Klein, C, Weissbach, A, Mellick, G, Silburn, P, Hadjigeorgiou, G, Dardiotis, E, Hattori, N, Ogaki, K, Tan, E, Zhao, Y, Aasly, J, Valente, E, Petrucci, S, Annesi, G, Quattrone, A, Ferrarese, C, Brighina, L, Deutschländer, A, Puschmann, A, Nilsson, C, Garraux, G, Ledoux, M, Pfeiffer, R, Boczarska Jedynak, M, Opala, G, Maraganore, D, Engelborghs, S, De Deyn, P, Cras, P, Cruts, M, Van Broeckhoven, C, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, and Pathologic Biochemistry and Physiology

Subjects
Male, Pathology, Parkinson's disease, Internationality, Gastroenterology, Cohort Studies, 0302 clinical medicine, C9orf72, genetics [Parkinson Disease], dna repeat expansion, Amyotrophic lateral sclerosis, Family history, Parkinson Disease/ diagnosis/epidemiology/ genetics, Proteins/ genetics, Medicine(all), 0303 health sciences, Frontotemporal lobar degeneration, Middle Aged, 3. Good health, c9orf72 protein, cohort studies, female, humans, internationality, male, middle aged, parkinson disease, proteins, Neurology, repeat-primed, Proteins/genetics, Cohort studies, Female, epidemiology [Parkinson Disease], diagnosis [Parkinson Disease], medicine.medical_specialty, short tandem repeat, genetics [DNA Repeat Expansion], Article, DNA Repeat Expansion/genetics, 03 medical and health sciences, Internal medicine, medicine, Humans, ddc:610, 030304 developmental biology, DNA Repeat Expansion/ genetics, C9orf72 Protein, business.industry, Parkinson Disease/diagnosis, Proteins, medicine.disease, genetics [Proteins], Genetic epidemiology, Genetic Epidemiology of Parkinson's Disease, Attributable risk, Etiology, Human medicine, Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
Abstract

Objectives: The objective of this study is to clarify the role of (G 4 C 2 ) n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson9s Disease (GEO-PD) cohort. Methods: C9orf72 (G 4 C 2 ) n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G 4 C 2 ) n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G 4 C 2 ) n repeats; however, we could not detect a robust association between the C9orf72 (G 4 C 2 ) n repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.

Published
2014

12. The choroid plexus harbors a circadian oscillator modulated by estrogens.

Author

Quintela, Telma, Albuquerque, Tânia, Lundkvist, Gabriella, Carmine Belin, Andrea, Talhada, Daniela, Gonçalves, Isabel, Carro, Eva, and Santos, Cecília R.A.

Subjects
SUPRACHIASMATIC nucleus, HYPOTHALAMUS, CIRCADIAN rhythms, STEROID hormones, GENETIC regulation
Abstract

The suprachiasmatic nucleus (SCN) of the hypothalamus is considered the master circadian oscillator in mammals. However, extra-SCN structures in the brain also display daily rhythms. Recently, we have demonstrated that the choroid plexus (CP) expresses core clock genes that are subjected to circadian regulation in a sex-dependent manner. By using CP explants cultured from female knock-in mice carrying thePeriod-luciferasetransgene, we show that CP exhibits endogenous circadian rhythms of PERIOD2::LUCIFERASE expression. Furthermore, we demonstrate that estrogen declines following ovariectomy modulates the daily rhythm expression ofBmal1, Per1andPer2in female rat CP, corroborating data obtained in experiments where rat CP epithelial cell (CPEC) cultures were incubated with 17β-estradiol (E2). The molecular mechanism underlying these effects was also investigated, and we provide evidence that the estrogen receptor (ER) mediates the response of clock genes to E2. In conclusion, our study proves that the CP harbors a circadian oscillator that is modulated by estrogens and demonstrates that E2 regulation occurs through an estrogen-receptor-dependent mechanism. [ABSTRACT FROM PUBLISHER]

Published
2018
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15. Genetic Screening of the Mitochondrial Rho GTPases MIRO1 and MIRO2 in Parkinson's Disease

Author

Anvret, Anna, Ran, Caroline, Westerlund, Marie, Sydow, Olof, Willows, Thomas, Olson, Lars, Galter, Dagmar, and Carmine Belin, Andrea

Abstract

MIRO1 and MIRO2 (mitochondrial Ras homolog gene family, member T1 and T2) also referred to as RHOT1 and RHOT2, belong to the mitochondrial Rho GTPase family and are involved in axonal transport of mitochondria in neu-rons. Because mitochondrial dysfunction is strongly implicated in Parkinson's disease (PD), MIRO1 and MIRO2 can be considered as new candidate genes for PD. We analyzed two non-synonymous polymorphisms and one synonymous polymorphism in MIRO1 and two non-synonymous polymorphisms in MIRO2, in a Swedish Parkinson case-control mate-rial consisting of 241 patients and 307 neurologically healthy controls. None of the analyzed polymorphisms in MIRO1 and MIRO2 were significantly associated with PD. Although we did not find a significant association with PD in our Swedish case-control material, we cannot exclude these Rho GTPases as candidate genes for PD or other neurodegenera-tive disorders.

Published
2012
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16. DJ-1 Mutations are Rare in a Swedish Parkinson Cohort

Author

Anvret, Anna, Blackinton, Jeff G., Westerlund, Marie, Ran, Caroline, Sydow, Olof, Willows, Thomas, Håkansson, Anna, Nissbrandt, Hans, and Carmine Belin, Andrea

Abstract

Mutations in the PARK7 gene, DJ-1, have been reported to cause early-onset and familial Parkinson’s disease (PD). The function of DJ-1 and how it contributes to the development of the disease is not clear today, but several studies report that DJ-1 is responsive to oxidative stress and important for the maintenance of mitochondria. We have screened three coding regions of DJ-1 (exon 2, 5 and 7) in a Swedish Parkinson cohort. The Swedish PD material consisted of 67 patients with a self reported positive family history of PD and 77 patients with early-onset of disease (??50 years old). We detected two patients with the previously reported synonymous mutation, Ala167Ala (c.501AG, rs71653621), in exon 7. No Ala167Ala carriers were identified among 213 neurologically healthy Swedish controls. Mechanisms by which the synonymous Ala167Ala mutation can have consequences are unknown. It may affect the mRNA stability, secondary structure of mRNA, synthesis, turnover, protein folding and function. We could show a 1.3% decrease in DJ-1 mRNA folding energy in the A

Published
2011
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17. Genetic Screening of Plasticity Regulating Nogo-Type Signaling Genes in Migraine.

Author

Smedfors, Gabriella, Liesecke, Franziska, Ran, Caroline, Olson, Lars, Karlsson, Tobias E., and Carmine Belin, Andrea

Subjects
GENETIC testing, MIGRAINE, SINGLE nucleotide polymorphisms, SPREADING cortical depression, GENES
Abstract

Migraine is the sixth most prevalent disease in the world and a substantial number of experiments have been conducted to analyze potential differences between the migraine brain and the healthy brain. Results from these investigations point to the possibility that development and aggravation of migraine may include grey matter plasticity. Nogo-type signaling is a potent plasticity regulating system in the CNS and consists of ligands, receptors, co-receptors and modulators with a dynamic age- and activity-related expression in cortical and subcortical regions. Here we investigated a potential link between migraine and five key Nogo-type signaling genes: RTN4, OMGP, MAG, RTN4R and LINGO1, by screening 15 single nucleotide polymorphisms (SNPs) within these genes. In a large Swedish migraine cohort (749 migraine patients and 4032 controls), using a logistic regression with sex as covariate, we found that there was no such association. In addition, a haplotype analysis was performed which revealed three haplotype blocks. These blocks had no significant association with migraine. However, to robustly conclude that Nogo-type genotypes signaling do not influence the prevalence of migraine, further studies are encouraged. [ABSTRACT FROM AUTHOR]

Published
2020
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18. Genetic Variations and mRNA Expression of NRF2 in Parkinson’s Disease

Author

Ran, Caroline, Wirdefeldt, Karin, Brodin, Lovisa, Ramezani, Mehrafarin, Westerlund, Marie, Xiang, Fengqing, Anvret, Anna, Willows, Thomas, Sydow, Olof, Johansson, Anders, Galter, Dagmar, Svenningsson, Per, and Carmine Belin, Andrea

Abstract

Nuclear factor erythroid 2-like 2 (NRF2) encodes a transcription factor regulating mechanisms of cellular protection and is activated by oxidative stress. NRF2 has therefore been hypothesized to confer protection against Parkinson’s disease and so far an NRF2 haplotype has been reported to decrease the risk of developing disease and delay disease onset. Also NRF2 adopts a nuclear localization in Parkinson’s disease, which is indicative of increased NRF2 activity. We have investigated the association between NRF2 and Parkinson’s disease in a Swedish case-control material and whether NRF2 expression levels correlate with NRF2 genetic variants, disease, or disease onset. Using pyrosequencing, we genotyped one intronic and three promoter variants in 504 patients and 509 control subjects from Stockholm. Further, we quantified NRF2 mRNA expression in EBV transfected human lymphocytes from patients and controls using quantitative real-time reverse transcription PCR. We found that one of the promoter variants, rs35652124, was associated with age of disease onset (Χ2 = 14.19, p value = 0.0067). NRF2 mRNA expression levels however did not correlate with the rs35652124 genotype, Parkinson’s disease, or age of onset in our material. More detailed studies on NRF2 are needed in order to elucidate how this gene affects pathophysiology of Parkinson’s disease.

Published
2017
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19. Possible Involvement of a Mitochondrial Translation Initiation Factor 3 Variant Causing Decreased mRNA Levels in Parkinson's Disease

Author

Anvret, Anna, Ran, Caroline, Westerlund, Marie, Thelander, Ann-Christin, Sydow, Olof, Lind, Charlotta, Håkansson, Anna, Nissbrandt, Hans, Galter, Dagmar, and Carmine Belin, Andrea

Abstract

Genes important for mitochondrial function have been implicated in Parkinson's disease (PD). Mitochondrial translation initiation factor 3 (MTIF3) is a nuclear encoded protein required for the initiation of complex formation on mitochondrial ribosomes. Dysfunction of MTIF3 may impair mitochondrial function and dopamine neurons appear to be particularly vulnerable to oxidative stress, which may relate to their degeneration in PD. An association was recently reported between the synonymous rs7669(C>T) in MTIF3 and PD in a German case-control material. We investigated rs7669 in a Swedish Parkinson case-control material. The study revealed no significant association of the individual genotypes or alleles with PD. When comparing the combined TT/CT-genotypes versus the CC-genotype, we observed a significant association (P=.0473) with PD. We also demonstrated that the TT-genotype causes a significant decrease in MTIF3 mRNA expression compared to the CC-genotype (P=.0163). Our findings support the hypothesis that MTIF3 may be involved in the etiology of PD.

Published
2010
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