Molecular analysis of α-synuclein gene in Parkinson′s disease in North Karnataka, India

Kadakol, G S; Kulkarni, Shashikant; Wali, Gautam; Gai, Pramod B

doi:10.4103/0028-3886.132338

Cited by 5 publications

(6 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These include a study with 140 PD patients and 201 normal controls that were tested for the p.Ala53Thr , p.Ala30Pro , p.Glu46Lys mutations 27 , and another for the p.Gly88Cys or p.Gly209Ala mutations in 169 patients, respectively 28 . A third study which re-sequenced 6 exons of the SNCA gene in 100 PD patients and ethnically-matched controls, also revealed no mutations in the gene in this population 29 .…”

Section: Discussionmentioning

confidence: 76%

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Kishore,

Sturm,

Soman Pillai

et al. 2024

npj Parkinsons Dis.

View full text Add to dashboard Cite

The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Indian ancestry and 1029 publicly available whole genomes from India as healthy controls (IndiGenomes), to determine the frequency of monogenic SNCA mutations. The raw sequence reads were analyzed using an in-house analysis pipeline, allowing the detection of small variants and structural variants using Manta. The in-depth analysis of the SNCA locus did not identify missense or structural variants, including previously identified SNCA mutations, in the Indian population. The familial forms of SNCA gene variants do not play a major role in the Indian PD population and this warrants further research in the under-represented population.

show abstract

Section: Discussionmentioning

confidence: 76%

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Kishore,

Sturm,

Soman Pillai

et al. 2024

npj Parkinsons Dis.

View full text Add to dashboard Cite

show abstract

“…According to reports, PD affects more than 1.5% of people over the age of 60 and around 5% of people over the age of 80. Based on this, it is estimated that 0.32 million people in India have PD, compared to 1.2 million people in the Western population [ 15 ]. However, certain research performed in India revealed that the incidence of PD in the Indian population is lower compared to that in the Western population.…”

Section: Discussionmentioning

confidence: 99%

“…The alarming rise in the prevalence of PD in India has been related to the demographic trend, changing environment, and lifestyle. According to recent investigations, there were 134 cases of PD among those over 50 [ 15 ]. The inhabitants of South India, and more especially the populations of North Karnataka, are a singular admixture of individuals from various ethnic, genetic, tribal, cultural, religious, and socioeconomic backgrounds.…”

Section: Discussionmentioning

confidence: 99%

“…Genes, such as NOS1 (nitric oxide synthase 1), SNCA (alpha-synuclein), PINK1 (PTEN-induced putative kinase 1), Parkin , UCH-L1 (ubiquitin C-terminal hydrolase L1), DJ-1 (PARK7), NR4A2 (nuclear receptor subfamily 4, group A, member 2), and LRRK2 (leucine-rich repeat kinase 2) have all been found to be mutated in PD [ 10 , 11 , 12 , 13 ], although only 1% of PD cases have SNCA mutations [ 14 ]. Previous research conducted in 2011-2012 on North Karnataka PD patients showed no genetic alterations in the SNCA gene [ 15 ]. The present study was conducted to evaluate the molecular changes in exon 29 of the NOS1 gene in North Karnataka.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Variation in Exon 29 of the NOS1 Gene Does Not Contribute to Parkinson’s Disease in the North Karnataka Population

Bulagouda,

Hegde,

Hegde

et al. 2023

Cureus

View full text Add to dashboard Cite

Introduction: Nitric oxide (NO) overproduction has been found to have neurotoxic effects on the brain. Moreover, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) induced, the suppression of the NO-synthesizing enzymes, such as neuronal nitric oxide synthase (nNOS) and inducible NOS (iNOS), has neuroprotective benefits in Parkinson's disease (PD). These findings imply that NOS may have a role in regulating the nigral dopaminergic neurons' tolerance to environmental stressors in PD. Objective: In the present study, we investigated variations in the NOS1 gene that may raise the likelihood of PD. Methods: PD patients who visited the neurology departments of several medical colleges and hospitals in North Karnataka, India, between 2009 and 2011 were included in the study. The detailed clinic pathological details were obtained from 100 PD patients. Genomic DNA was isolated using the kit method followed by the evaluation of the quality and quantity of isolated gDNA. Polymerase chain reaction (PCR) amplification of exon 29 was performed, and sequencing was performed using the Applied Biosystems ABI 3500 Sanger sequencing platform. Results: The present study is comprised of 100 PD patients, which includes 65 males and 35 females. There were 64 sporadic, 34 idiopathic, and two familial PD cases. The majority (67.1%) of PD cases were from metropolitan areas. Community-based segregation showed that the maximum cases were from Hindu Lingayat. A proportion (90.8%) of the patients had tremors, 32.7% of them displayed slowness in their daily tasks, and 8.1% of them had dyskinesia. Molecular analysis showed two untranslated region (UTR) variations g.151787 del T (rs1434015950) and g.151745 C>T (rs2682826) in our study group. Conclusion: The absence of mutations in the targeted NOS1 gene in the PD patients from North Karnataka shows the involvement of other genes in the molecular pathophysiology. Thus, it is crucial to screen other possible genes using cutting-edge technology to obtain a clear picture of the genetics of PD.

show abstract

“…In the three Indian studies from northern and southern regions, none of the patients had mutations of SNCA gene. [ 85 86 87 ] Parkin gene mutations which are autosomal recessive, are the commonest mutations in YOPD. Prevalence of parkin gene in PD has been reported from five studies in India.…”

Section: Geneticsmentioning

confidence: 99%

Research in Parkinson′s disease in India: A review

Surathi¹,

Jhunjhunwala²,

Yadav³

et al. 2016

Ann Indian Acad Neurol

View full text Add to dashboard Cite

Parkinson's disease (PD) is a common neurodegenerative disorder affecting patients in large numbers throughout the world. In this article, we review all the published data on PD based on studies in Indian population. We have tried to consolidate the contribution of Indian studies in PD research. We found 95 articles, of which 92 were original research papers. This is a relatively less number, but in the last decade, there has been an increase in research on PD from this country. But most of them seem to be restricted to only a few research institutes. The nonmotor symptoms and genetics are the most commonly studied aspects. The systematic review of the articles reveals that the epidemiology in India may be different with relatively lesser incidence here. Most of the genetic mutations found to cause PD in other population are not found in India, revealing that other genetic factors may be involved. Further research needs to be encouraged to understand the disease in Indian patients better, as all the results cannot be extrapolated from the Western literature to this heterogeneous Indian population. There need to be more studies on therapeutic aspects of the disease.

show abstract

Molecular analysis of α-synuclein gene in Parkinson′s disease in North Karnataka, India

Abstract: These findings support the hypothesis that the SNCA gene mutations might be population specific and may not be playing role in causing PD in all the populations.

Cited by 5 publications

References 20 publications

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Variation in Exon 29 of the NOS1 Gene Does Not Contribute to Parkinson’s Disease in the North Karnataka Population

Research in Parkinson′s disease in India: A review

Contact Info

Product

Resources

About