TY  - JOUR
AB  - Parkinson's disease (PD) is a common progressive neurodegenerative disorder with motor and nonmotor symptoms. Recent studies demonstrate various susceptibility loci and candidate genes for familial forms of the disease. However, the genetic basis of the familial form of early-onset PD (EOPD) is not widely studied in the Iranian population. Therefore, the present study aimed to investigate the possible causative genetic variants responsible for developing EOPD among Iranian patients. Iranian patients with a clinical diagnosis of Parkinson's disease were evaluated, and 12 consanguineous families with at least two affected individuals with early-onset PD (EOPD) were chosen to enroll in the present study. An expert neurologist group examined these families. Whole-exome sequencing (WES) was performed on PD patients, and the possible causative genetic variants related to the development of PD were reported. Exome sequencing (WES) was performed on every PD patient and revealed that patients had novel genetic variants in PRKN, PARK7, and PINK1 genes. All the genetic variants were in homozygous status and none of these variants were previously reported in the literature. Moreover, these genetic variants were "pathogenic" based on bioinformatic studies and according to the American College of Medical Genetics (ACMG). The present research revealed some novel variants for EOPD among the Iranian population. Further functional studies are warranted to confirm the pathogenicity of these novel variants and establish their clinical application for the early diagnosis of EOPD.
AU  - Soudyab, M.*
AU  - Shariati, M.*
AU  - Esfehani, R.J.*
AU  - Shalaei, N.*
AU  - Vafadar, S.*
AU  - Nouri, V.*
AU  - Zech, M.
AU  - Winkelmann, J.
AU  - Shoeibi, A.*
AU  - Sadr-Nabavi, A.
C1  - 66982
C2  - 53394
CY  - Campus, 4 Crinan St, London, N1 9xw, England
SP  - 2486-2496
TI  - Whole-exome sequencing study of consanguineous Parkinson's disease families and related phenotypes: Report of Twelve novel variants.
JO  - J. Mol. Neurosci.
VL  - 72
IS  - 12
PB  - Springernature
PY  - 2022
SN  - 0895-8696
ER  - 

TY  - JOUR
AB  - Oxidative stress resulting from an increased amount of reactive oxygen species and an imbalance between oxidants and antioxidants has been implicated in pathogenesis of cerebral stroke. The purpose of this study was to investigate the relationship between common polymorphisms of glutathione S-transferase M1, T1, and P1 genes and risk of stroke in hypertensive individuals. A total of 667 unrelated Russian individuals with hypertension, including 306 hypertensives who suffered from cerebral stroke and 361 hypertensives who did not have cerebrovascular accidents, were recruited for the study. The deletion polymorphisms of GSTM1 and GSTT1 genes and polymorphism Ile105Val of the GSTP1 gene were genotyped by a multiplex polymerase chain reaction and restriction analyses, respectively. No differences in GSTM1 and GSTP1 genotype distributions between the cases and controls have been observed. The null GSTT1 genotype was found to be associated with increased risk of cerebral stroke after Bonferroni correction and adjusting for confounding variables such as gender, blood pressure, body mass index, and antihypertensive medication use (odds ratio 1.51 95 % CI 1.09-2.07, P = 0.01). The present study was the first to show the association of null genotype of the GSTT1 gene with increased risk of cerebral stroke.
AU  - Polonikov, A.*
AU  - Vialykh, E.*
AU  - Vasil'eva, O.*
AU  - Bulgakova, I.*
AU  - Bushueva, O.*
AU  - Illig, T.
AU  - Solodilova, M.*
C1  - 7593
C2  - 29871
SP  - 511-513
TI  - Genetic variation in glutathione s-transferase genes and risk of nonfatal cerebral stroke in patients suffering from essential hypertension.
JO  - J. Mol. Neurosci.
VL  - 47
IS  - 3
PB  - Humana Press
PY  - 2012
SN  - 0895-8696
ER  -