ORCID Profile
0000-0001-9458-5860
Current Organisation
University of Guilan
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Publisher: Oxford University Press (OUP)
Date: 07-12-2022
Abstract: Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN mutations, idiopathic Parkinson’s disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaffected PINK1/PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mitochondrial DNA variant load (area under the curve = 0.83, CI 0.74–0.93). Biallelic PINK1/PRKN mutation carriers harbour more heteroplasmic mitochondrial DNA variants in blood (P = 0.0006, Z = 3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in induced pluripotent stem cell-derived (controls, n = 3 biallelic PRKN mutation carriers, n = 4) and post-mortem (control, n = 1 biallelic PRKN mutation carrier, n = 1) midbrain neurons. Last, the heteroplasmic mitochondrial DNA variant load correlated with IL6 levels in PINK1/PRKN mutation carriers (r = 0.57, P = 0.0074). PINK1/PRKN mutations predispose in iduals to mitochondrial DNA variant accumulation in a dose- and disease-dependent manner.
Publisher: Wiley
Date: 24-01-2023
DOI: 10.1002/MDS.29288
Abstract: As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial‐ready cohorts is limited. The objectives are to (1) establish an international cohort of affected and unaffected in iduals with PD‐linked variants (2) provide harmonized and quality‐controlled clinical characterization data for each included in idual and (3) further promote collaboration of researchers in the field of monogenic PD. We conducted a worldwide, systematic online survey to collect in idual‐level data on in iduals with PD‐linked variants in SNCA , LRRK2 , VPS35 , PRKN , PINK1 , DJ‐1 , as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included in iduals, 3185 had a diagnosis of PD (ie, 1306 LRRK2 , 115 SNCA , 23 VPS35 , 429 PRKN , 75 PINK1 , 13 DJ‐1 , and 1224 GBA ) and 703 were unaffected (ie, 328 LRRK2 , 32 SNCA , 3 VPS35 , 1 PRKN , 1 PINK1 , and 338 GBA ). In total, we identified 269 different pathogenic variants 1322 in iduals in our cohort (34%) were indicated as not previously published. Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected in iduals carrying PD‐linked variants (2) provide harmonized and quality‐controlled clinical and genetic data for each included in idual (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene‐targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Publisher: Wiley
Date: 05-08-2018
DOI: 10.1111/AGE.12700
Abstract: Several causative mutations in candidate genes affecting prolificacy have been detected in various sheep breeds. A genome-wide association study was performed on estimated breeding values for litter size in Lori-Bakhtiari sheep. Prolific ewes with twinning records and others with only singleton records were genotyped using the medium-density Illumina Ovine SNP50 array. Four single nucleotide polymorphisms (SNPs) associated with litter size were identified on chromosomes 3, 6 and 22. The region on sheep chromosome 3 between 75 739 167 and 75 745 152 bp included two significant SNPs (s52383.1 and OAR3_80038014_X.1) in high linkage disequilibrium with each other. The region that surrounds these SNPs contains a novel putative candidate gene: luteinizing hormone/choriogonadotropin receptor (LHCGR), known to be involved in ovarian steroidogenesis and organism-specific biosystem pathways in sheep. Known prolificacy genes BMPR1B, BMP15 and GDF9 were not associated with litter size in Lori-Bakhtiari sheep, suggesting that other biological mechanisms could be responsible for the trait's variation in this breed.
Publisher: Wiley
Date: 05-08-2016
DOI: 10.1111/RDA.12733
Abstract: Ovulation rate and litter size are important reproduction traits in sheep and are of high economic value. Reproduction traits typically have low to medium heritabilities and do not exhibit a noticeable response to phenotypic selection. Therefore, inclusion of genetic information of the genes associated with reproductive ability could efficiently enhance the selection response. The most important major genes affecting prolificacy and their genetic ersities in different sheep breeds were reviewed. Different causative mutations with major effects on reproductive traits including ovulation rate and litter size have been found in various sheep breeds around the world. A general overview of the studies on main prolificacy genes showed that some alleles may express different phenotypic effects in different breeds, and thus, further studies on epistatic effects are necessary for more understanding of genetic control of reproductivity in sheep. Regarding the polygenic control of fertility traits, application of new high-throughput technologies to find new variants is essential for future studies. Moreover, genomewide association studies and genomic best linear unbiased predictions of breeding values are likely to be effective tools for genetic improvement of sheep reproductive performance traits.
Publisher: Springer Science and Business Media LLC
Date: 04-04-2023
Publisher: Informa UK Limited
Date: 02-2018
DOI: 10.1080/17476348.2018.1433034
Abstract: Cardiorespiratory physiotherapy is an evidence-based practice that has evolved alongside changes in medical and surgical management, analgesia, the ageing society and increasing comorbidities of our patient populations. Continued research provides the profession with the ability to adapt to meet the changing patient and community needs. Areas covered: This review focuses on surgical, respiratory and critical care settings discussing the most significant changes over the past decade with an increased focus on rehabilitation across the care continuum and a shift away from providing predominately airway clearance in established disease populations but also providing this in emerging groups. Further important changes are identification and emphases on patient self-management including changing their behaviour to more positively embrace wellness, particularly increasing physical activity levels. This paper outlines these changes and offers speculation on factors that may impact the profession in the future. Expert commentary: The increasing focus on new technologies, physical activity levels, changes to the health systems in different countries and an increasingly comorbid and ageing society will shape the next steps in the evolution of cardiorespiratory physiotherapy. Continued research is vital to keep pace with these changes so that physiotherapists can provide the most effective treatments to improve patient outcomes.
No related grants have been discovered for Navid Ghavi Hossein-Zadeh.