Glutathione S-transferase polymorphisms (GSTM1/GSTT1) outcomes in clinical profile and treatment responsiveness among Tunisian cohort of Parkinson's disease.
GSTT1/GSTM1
Parkinson’disease
Treatment responsiveness
Tunisia
Journal
Journal of neural transmission (Vienna, Austria : 1996)
ISSN: 1435-1463
Titre abrégé: J Neural Transm (Vienna)
Pays: Austria
ID NLM: 9702341
Informations de publication
Date de publication:
09 Aug 2024
09 Aug 2024
Historique:
received:
15
05
2024
accepted:
23
07
2024
medline:
10
8
2024
pubmed:
10
8
2024
entrez:
9
8
2024
Statut:
aheadofprint
Résumé
Glutathione S-transferases are involved in the oxidative stress which contributes to the pathogenesis of Parkinson's disease (PD). our aim was to investigate the influence of GSTM1 and GSTT1 polymorphisms on the clinical features and treatments outcomes among PD Tunisian patients. We included 300-PD patients followed in neurology department at Razi-University-hospital. GSTM1 and GSTT1 were screened using PCR methods. Correlation between the clinical phenotype and the genotypes was then assessed after adequate parameters adjustment. Individuals carrying inactive GSTT1/GSTM1 were estimated to have 2.5-fold higher risk of developing PD, p = 0.035. The demographic and clinical baseline analysis of GSTM1 polymorphism revealed significant association between the inactive gene and development of tremor as first symptoms (p = 0.046), further, it was correlated to asymmetric start (p = 0.044). The evaluation of the impact of GSTM1/GSTT1 activity among PD at last follow-up revealed the significant variability of motor impairment among cases carrier of the active genes (p = 0.048). As patients with inactive GSTM1/GSTT1 had higher UPDRS-III score. Additionally, higher frequency of cases with good treatment responsiveness was reported among PD with active GSTM1/GSTT1 (p = 0.038).No motor complications were observed among PD by considering the GSTs genotypes (p > 0.05). Finally, we noted significant impairment of memory among cases with inactivate GSTs (p = 0.04), attention deficit (p = 0.013) and impaired judgement (p = 0.0031). This study represents one of the most comprehensive and extensive investigation to date regarding the influence of GSTT1/GSTM1 genotype among PD patients.We speculate that the impact of GSTT1/GSTM1 on PD progression may occur through a cumulative effect, potentially not manifesting during the initial PD stages. Further studies are necessary to validate our conclusions.
Identifiants
pubmed: 39123072
doi: 10.1007/s00702-024-02815-w
pii: 10.1007/s00702-024-02815-w
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.
Références
Ahmadi A, Fredrikson M, Jerregård H et al (2000) GSTM1 and mEPHX polymorphisms in Parkinson’s Disease and Age of Onset. Biochem Biophys Res Commun 269:676–680. https://doi.org/10.1006/bbrc.2000.2338
doi: 10.1006/bbrc.2000.2338
pubmed: 10720475
Bandres-Ciga S, Ahmed S, Sabir MS et al (2019) The Genetic Architecture of Parkinson Disease in Spain: characterizing Population-Specific Risk, Differential Haplotype structures, and providing Etiologic Insight. Mov Disord 34:1851–1863. https://doi.org/10.1002/mds.27864
doi: 10.1002/mds.27864
pubmed: 31660654
pmcid: 8393828
Barreh GA, Sghaier I, Abida Y et al (1713798001) LRRK2 G2019S impact on Parkinson disease; clinical phenotype and treatment in Tunisian patients. JMD. https://doi.org/10.14802/jmd.23276
Beal MF, Chiluwal J, Calingasan NY et al (2020) Isotope-reinforced polyunsaturated fatty acids improve Parkinson’s disease-like phenotype in rats overexpressing α-synuclein. Acta Neuropathol Commun 8:220. https://doi.org/10.1186/s40478-020-01090-6
doi: 10.1186/s40478-020-01090-6
pubmed: 33308320
pmcid: 7731572
Ben Jemaa S, Attia Romdhane N, Bahri-Mrabet A et al (2017) An Arabic Version of the Cognitive Subscale of the Alzheimer’s Disease Assessment Scale (ADAS-Cog): reliability, validity, and normative data. J Alzheimers Dis 60:11–21. https://doi.org/10.3233/JAD-170222
doi: 10.3233/JAD-170222
pubmed: 28505978
Chbili C, B’chir F, Ben Fredj M et al (2014) Effects of glutathione S-transferase M1 and T1 deletions on epilepsy risk among a Tunisian population. Epilepsy Res 108:1168–1173. https://doi.org/10.1016/j.eplepsyres.2014.05.009
doi: 10.1016/j.eplepsyres.2014.05.009
pubmed: 24970787
Cummings JL, Mega M, Gray K et al (1994) The neuropsychiatric inventory: comprehensive assessment of psychopathology in dementia. Neurology 44:2308–2314. https://doi.org/10.1212/wnl.44.12.2308
doi: 10.1212/wnl.44.12.2308
pubmed: 7991117
Deliz JR, Tanner CM, Gonzalez-Latapi P (2024) Epidemiology of Parkinson’s Disease: an update. https://doi.org/10.1007/s11910-024-01339-w . Curr Neurol Neurosci Rep
Dubois B, Slachevsky A, Litvan I, Pillon B (2000) The FAB: a Frontal Assessment Battery at bedside. Neurology 55:1621–1626. https://doi.org/10.1212/wnl.55.11.1621
doi: 10.1212/wnl.55.11.1621
pubmed: 11113214
Ghosh T, Mustafa Md, Kumar V et al (2012) A preliminary study on the influence of glutathione S transferase T1 (GSTT1) as a risk factor for late onset Alzheimer’s disease in north Indian population. Asian J Psychiatry 5:160–163. https://doi.org/10.1016/j.ajp.2012.02.023
doi: 10.1016/j.ajp.2012.02.023
Goetz CG, Tilley BC, Shaftman SR et al (2008) Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS): Scale presentation and clinimetric testing results. Mov Disord 23:2129–2170. https://doi.org/10.1002/mds.22340
doi: 10.1002/mds.22340
pubmed: 19025984
Grober E, Buschke H (1987) Genuine memory deficits in dementia. Dev Neuropsychol 3:13–36. https://doi.org/10.1080/87565648709540361
doi: 10.1080/87565648709540361
Huang M, Chen S (2021) DJ-1 in neurodegenerative diseases: Pathogenesis and clinical application. Prog Neurobiol 204:102114. https://doi.org/10.1016/j.pneurobio.2021.102114
doi: 10.1016/j.pneurobio.2021.102114
pubmed: 34174373
Jost ST, Kaldenbach M-A, Antonini A et al (2023) Levodopa Dose Equivalency in Parkinson’s Disease: updated systematic review and proposals. Mov Disord 38:1236–1252. https://doi.org/10.1002/mds.29410
doi: 10.1002/mds.29410
pubmed: 37147135
Kang W-Y, Yang Q, Jiang X-F et al (2014) Salivary DJ-1 could be an indicator of parkinson’s disease progression. Front Aging Neurosci 6. https://doi.org/10.3389/fnagi.2014.00102
Kiyohara C, Miyake Y, Koyanagi M et al (2010) GST polymorphisms, interaction with smoking and pesticide use, and risk for Parkinson’s disease in a Japanese population. Parkinsonism Relat Disord 16:447–452. https://doi.org/10.1016/j.parkreldis.2010.04.009
doi: 10.1016/j.parkreldis.2010.04.009
pubmed: 20472488
Lill CM, Hansen J, Olsen JH et al (2015) Impact of Parkinson’s disease risk loci on age at onset. Mov Disord 30:847–850. https://doi.org/10.1002/mds.26237
doi: 10.1002/mds.26237
pubmed: 25914293
Liu H, Xu Y, Peng J (2023) ) < em > glutathione S-Transferase M1/<em > T1 polymorphisms and Schizophrenia Risk: a New Method for Quality Assessment and a systematic Review</em >. NDT 19:97–107. https://doi.org/10.2147/NDT.S376942
doi: 10.2147/NDT.S376942
Mihaescu AS, Valli M, Uribe C et al (2022) Beta amyloid deposition and cognitive decline in Parkinson’s disease: a study of the PPMI cohort. Mol Brain 15:79. https://doi.org/10.1186/s13041-022-00964-1
doi: 10.1186/s13041-022-00964-1
pubmed: 36100909
pmcid: 9472347
Miyama A, Saito Y, Yamanaka K et al (2011) Oxidation of DJ-1 Induced by 6-Hydroxydopamine decreasing intracellular glutathione. PLoS ONE 6:e27883. https://doi.org/10.1371/journal.pone.0027883
doi: 10.1371/journal.pone.0027883
pubmed: 22132160
pmcid: 3221727
Nakanishi G, Pita-Oliveira M, Bertagnolli LS et al (2022) Worldwide systematic review of GSTM1 and GSTT1 null genotypes by continent, ethnicity, and therapeutic area. OMICS 26:528–541. https://doi.org/10.1089/omi.2022.0090
doi: 10.1089/omi.2022.0090
pubmed: 36112350
Nalls MA, Blauwendraat C, Vallerga CL et al (2019) Identification of novel risk loci, causal insights, and heritable risk for Parkinson’s disease: a meta-genome wide association study. Lancet Neurol 18:1091–1102. https://doi.org/10.1016/S1474-4422(19)30320-5
doi: 10.1016/S1474-4422(19)30320-5
pubmed: 31701892
pmcid: 8422160
Nazem S, Siderowf AD, Duda JE et al (2009) Montreal cognitive assessment performance in patients with Parkinson’s disease with normal global cognition according to mini-mental state examination score. J Am Geriatr Soc 57:304–308. https://doi.org/10.1111/j.1532-5415.2008.02096.x
doi: 10.1111/j.1532-5415.2008.02096.x
pubmed: 19170786
Ngo KJ, Paul KC, Wong D et al (2024) Lysosomal genes contribute to Parkinson’s disease near agriculture with high intensity pesticide use. npj Parkinsons Dis 10:1–10. https://doi.org/10.1038/s41531-024-00703-4
doi: 10.1038/s41531-024-00703-4
Nyholm D, Jost WH (2022) Levodopa–entacapone–carbidopa intestinal gel infusion in advanced Parkinson’s disease: real-world experience and practical guidance. Ther Adv Neurol Disord 15:17562864221108018. https://doi.org/10.1177/17562864221108018
doi: 10.1177/17562864221108018
pubmed: 35785401
pmcid: 9244918
Oke B, Akbas F, Aydin M, Berkkan H (1998) GSTT1 null genotype frequency in a Turkish population. Arch Toxicol 72:454–455. https://doi.org/10.1007/s002040050527
doi: 10.1007/s002040050527
pubmed: 9708886
Owen AD, Schapira AH, Jenner P, Marsden CD (1996) Oxidative stress and Parkinson’s disease. Ann N Y Acad Sci 786:217–223. https://doi.org/10.1111/j.1749-6632.1996.tb39064.x
doi: 10.1111/j.1749-6632.1996.tb39064.x
pubmed: 8687021
Pagliarin KC, Ortiz KZ, de Parente MA MP, et al (2014) Montreal-Toulouse language assessment battery for aphasia: validity and reliability evidence. NeuroRehabilitation 34:463–471. https://doi.org/10.3233/NRE-141057
doi: 10.3233/NRE-141057
pubmed: 24473247
Postuma RB, Berg D, Stern M et al (2015) MDS clinical diagnostic criteria for Parkinson’s disease. Mov Disord 30:1591–1601. https://doi.org/10.1002/mds.26424
doi: 10.1002/mds.26424
pubmed: 26474316
Prabha TS, Kumaraswami K, Kutala VK (2016) Association of GSTT1 and GSTM1 polymorphisms in South Indian Epilepsy patients. Indian J Exp Biol 54:783–787
pubmed: 30179425
Rebai A, Chbili C, Ben Amor S et al (2021) Effects of glutathione S-transferase M1 and T1 deletions on Parkinson’s disease risk among a north African population. Rev Neurol 177:290–295. https://doi.org/10.1016/j.neurol.2020.03.013
doi: 10.1016/j.neurol.2020.03.013
pubmed: 32359946
Rizig M, Bandres-Ciga S, Makarious MB et al (2023) Identification of genetic risk loci and causal insights associated with Parkinson’s disease in African and African admixed populations: a genome-wide association study. Lancet Neurol 22:1015–1025. https://doi.org/10.1016/S1474-4422(23)00283-1
doi: 10.1016/S1474-4422(23)00283-1
pubmed: 37633302
Schade S, Sixel-Döring F, Ebentheuer J et al (2017) Acute Levodopa Challenge Test in patients with de novo Parkinson’s disease: data from the DeNoPa Cohort. Mov Disord Clin Pract 4:755–762. https://doi.org/10.1002/mdc3.12511
doi: 10.1002/mdc3.12511
pubmed: 30363372
pmcid: 6174366
Schade S, Mollenhauer B, Trenkwalder C (2020) Levodopa Equivalent Dose Conversion factors: an updated proposal including opicapone and safinamide. Mov Disord Clin Pract 7:343–345. https://doi.org/10.1002/mdc3.12921
doi: 10.1002/mdc3.12921
pubmed: 32258239
pmcid: 7111582
Schirinzi T, Zenuni H, Grillo P et al (2022) Tau and Amyloid-β peptides in serum of patients with Parkinson’s Disease: correlations with CSF levels and clinical parameters. Front Neurol 13. https://doi.org/10.3389/fneur.2022.748599
Schneider JS, Sendek S, Yang C (2015) Relationship between motor symptoms, Cognition, and demographic characteristics in treated Mild/Moderate Parkinson’s Disease. PLoS ONE 10:e0123231. https://doi.org/10.1371/journal.pone.0123231
doi: 10.1371/journal.pone.0123231
pubmed: 25905783
pmcid: 4407885
Simonian NA, Coyle JT (1996) Oxidative stress in neurodegenerative diseases. Annu Rev Pharmacol Toxicol 36:83–106. https://doi.org/10.1146/annurev.pa.36.040196.000503
doi: 10.1146/annurev.pa.36.040196.000503
pubmed: 8725383
Sirugo G, Williams SM, Tishkoff SA (2019) The missing diversity in Human Genetic studies. Cell 177:26–31. https://doi.org/10.1016/j.cell.2019.02.048
doi: 10.1016/j.cell.2019.02.048
pubmed: 30901543
pmcid: 7380073
Smeyne M, Smeyne RJ (2013) Glutathione metabolism and Parkinson’s Disease. Free Radic Biol Med 62:13–25. https://doi.org/10.1016/j.freeradbiomed.2013.05.001
doi: 10.1016/j.freeradbiomed.2013.05.001
pubmed: 23665395
pmcid: 3736736
Stroombergen MCMJ, Waring RH, Bennett P, Williams AC (1996) Determination of the GSTM1 gene deletion frequency in Parkinson’s disease by allele specific PCR. Parkinsonism Relat Disord 2:151–154. https://doi.org/10.1016/1353-8020(96)00014-4
doi: 10.1016/1353-8020(96)00014-4
pubmed: 18591034
Torres LL, Quaglio NB, De Souza GT et al (2011) Peripheral oxidative stress biomarkers in mild cognitive impairment and Alzheimer’s Disease. JAD 26:59–68. https://doi.org/10.3233/JAD-2011-110284
doi: 10.3233/JAD-2011-110284
pubmed: 21593563
Upton J (2013) Beck Depression Inventory (BDI). In: Gellman MD, Turner JR (eds) Encyclopedia of behavioral medicine. Springer, New York, NY, pp 178–179
Veldman BAJ, Wijn AM, Knoers N et al (1998) Genetic and environmental risk factors in Parkinson’s disease. Clin Neurol Neurosurg 100:15–26. https://doi.org/10.1016/S0303-8467(98)00009-2
doi: 10.1016/S0303-8467(98)00009-2
pubmed: 9637199
Visser M, Marinus J, Stiggelbout AM, Van Hilten JJ (2004) Assessment of autonomic dysfunction in Parkinson’s disease: the SCOPA-AUT. Mov Disord 19:1306–1312. https://doi.org/10.1002/mds.20153
doi: 10.1002/mds.20153
pubmed: 15390007
Wakabayashi K, Tanji K, Mori F, Takahashi H (2007) The Lewy body in Parkinson’s disease: molecules implicated in the formation and degradation of alpha-synuclein aggregates. Neuropathology 27:494–506. https://doi.org/10.1111/j.1440-1789.2007.00803.x
doi: 10.1111/j.1440-1789.2007.00803.x
pubmed: 18018486
Yesavage JA, Brink TL, Rose TL et al (1982) Development and validation of a geriatric depression screening scale: a preliminary report. J Psychiatr Res 17:37–49. https://doi.org/10.1016/0022-3956(82)90033-4
doi: 10.1016/0022-3956(82)90033-4
pubmed: 7183759