A5033651196- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Alzheimer's disease research and treatments
- Genomics and Rare Diseases
- Parkinson's Disease Mechanisms and Treatments
- Cancer-related gene regulation
- Neuroinflammation and Neurodegeneration Mechanisms
- Muscle Physiology and Disorders
- Neurological diseases and metabolism
- Genetics and Physical Performance
- Obsessive-Compulsive Spectrum Disorders
- Microtubule and mitosis dynamics
- Signaling Pathways in Disease
- Nuclear Receptors and Signaling
- Inflammation biomarkers and pathways
- biodegradable polymer synthesis and properties
- Genetics, Aging, and Longevity in Model Organisms
- Cardiomyopathy and Myosin Studies
- Cholinesterase and Neurodegenerative Diseases
- Nutrition and Health Studies
- Corneal surgery and disorders
- Olfactory and Sensory Function Studies
- Glaucoma and retinal disorders
- Hedgehog Signaling Pathway Studies
- Inflammatory Myopathies and Dermatomyositis
Mossakowski Medical Research Institute, Polish Academy of Sciences
2011-2024
Polish Academy of Sciences
2014-2024
Umeå University
2018-2020
Institute for Neurodegenerative Disorders
2015
New Chemical Syntheses Institute
2013
Vita-Salute San Raffaele University
2011
Abstract Mutations in superoxide dismutase 1 gene ( SOD1 ) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- intrafamilial heterogeneity. aim the study was analyze relations between individual mutations presentation using silico methods assess severity. We identified causative variants group 915 prospectively tested consecutive Polish patients from neuromuscular...
The BRCA1 protein, one of the major players responsible for DNA damage response has recently been linked to Alzheimer’s disease (AD). Using primary fibroblasts and neurons reprogrammed from induced pluripotent stem cells (iPSC) derived familial AD (FAD) patients, we studied role protein underlying molecular neurodegeneration. By whole-transcriptome approach, have found wide range disturbances in cell cycle FAD fibroblasts. This was manifested by significantly increased content phosphorylated...
<title>Abstract</title> Neurodegenerative disorders leading to dementia often have multifactorial etiologies, but monogenic causes are occasionally identified. We report a three-generation family with two individuals (mother and son) affected by non-syndromic psychiatric disorder featuring early-onset cognitive decline. Exome sequencing revealed novel MAPK1 variant (Y128C), de novo in mother, inherited her son. Modeling demonstrated that the alters regulatory region known as common docking...
To characterise stabilities in erythrocytes of mutant SOD1 proteins, compare enzymatic activities between patients with different genetic causes ALS and search for underlying deviant individuals lacking mutations.Blood samples from 4072 individuals, or without a mutation, family members controls were studied. Erythrocyte normalised to haemoglobin content determined, effects disorders on dismutation assessed. Coding sequences analysed by Sanger sequencing, exon copy number variations fragment...
Background Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission considered prime abnormality in the pathophysiology There are reciprocal antagonistic interactions between adenosine dopamine transmission. The aim study was to analyze association two polymorphisms, rs2228079 ADORA1 rs5751876 ADORA2A, with risk GTS co-morbid disorders. Material Methods A total 162 Polish patients 270 healthy...
Over two dozen mutations in the gene encoding microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. The vast majority these map to C-terminal region possessing assembly dynamics regulatory activities well ability promote pathological aggregation. Here, we describe novel non-conservative mutation (G55R) mapping an alternatively spliced exon part N-terminal patient with...
Abstract Background Peptidyl-prolyl isomerase, NIMA-interacting 1 (PIN1) plays a significant role in the brain and is implicated numerous cellular processes related to Alzheimer's disease (AD) other neurodegenerative conditions. There are confounding results concerning PIN1 activity AD brains. Also genetic variation was inconsistently associated with risk. Methods We performed analysis of coding promoter regions early- late-onset frontotemporal dementia (FTD) patients comparison healthy...
Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are neurodegenerative diseases with TDP-43 mislocalization aggregation. Genetic forms of FTLD ALS caused by pathogenic variants in various genes, such as PGRN (progranulin). To date, depletion parkin E3 ubiquitin protein ligase, a key mitophagy regulator, has been reported sporadic patients mice models proteinopathy. In this work, we show downregulation also fibroblasts derived from four different variants. We...
Frontotemporal dementia (FTD) is one of the commonest forms early-onset dementia, accounting for up to 20% all patients. Recently, it has been shown that mutations in progranulin gene (PGRN) cause many familial cases FTD. Members
Objectives: Patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) may be agraphic. The study aimed at characterizing agraphia in individuals a P301L MAPT mutation.Methods: Two pairs of siblings FTDP-17 were longitudinally examined for relation language cognitive deficits.Results: All patients presented dysexecutive agraphia. In addition, the first pair one sibling demonstrated spatial less pronounced allographic other had aphasic Aphasic was also present...
Desmin is a muscle-specific intermediate filament protein which forms network connecting the sarcomere, T tubules, sarcolemma, nuclear membrane, mitochondria and other organelles. Mutations in gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies. The molecular pathomechanisms of disease remain ambiguous. Here, we describe comprehensively characterize two DES mutations found Polish patients clinical diagnosis desminopathy....
Sporadic inclusion body myositis (sIBM) is one of the most common myopathies in patients above 50 years age. Its progressive course finally leads to immobilisation, and no effective therapy exists. pathogenesis includes both degenerative inflammatory processes, however, its direct causes remain unknown. Therefore, a possible genetic background disease must also be considered.Here we report on twelve patients: eight with sporadic four other rimmed vacuoles muscle biopsy. All were evaluated...
Activation of the TREM2 receptor on microglia stimulates phagocytosis and decreases microglial proinflammatory response. Mutations in exon 2 gene have been reported to be associated with various neurodegenerative diseases characterized by chronic inflammation. The aim our study was evaluate variants as a putative genetic risk factor for Alzheimer's disease (AD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) Polish population. results were interpreted using previously...
Olfactory dysfunction is associated with normal aging, multiple neurodegenerative disorders, including Parkinson's disease, Lewy body disease and Alzheimer's other diseases such as diabetes, sleep apnea the autoimmune myasthenia gravis. The wide spectrum of disorders olfactory suggests different, potentially overlapping, underlying pathophysiologies. Studying in presymptomatic carriers mutations known to cause familial parkinsonism provides unique opportunities understand role genetic...
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. The etiology of the unknown, although predominant role genetic factors has been established. Variants BTBD9 gene (rs4714156, rs9296249 rs9357271) have reported to be associated with GTS in French Canadian Chinese Han populations. Therefore, we decided test association between polymorphisms Polish patients. Our cohort cases comprised 162 patients aged 4–54 years (mean age: 19.9+/-8.7...
ABSTRACT Myosin VI (MVI) is a unique unconventional myosin translocating, unlike other myosins, towards the minus end of actin filaments. It involved in numerous cellular processes such as endocytosis, intracellular trafficking, cell migration, and transcription. In mammalian skeletal muscles it localizes mainly to sarcoplasmic reticulum also present within muscle nuclei at neuromuscular junction (Karolczak et al. Histochem Cell Biol 2013; 23:219‐228). We have shown that denervated rat...
Cu/Zn superoxide dismutase (SOD1) gene mutations are the most frequently reported genetic causes of amyotrophic lateral sclerosis (ALS). The objective study was to describe a clinical phenotype and haplotype background Polish Japanese ALS patients harbouring K3E SOD1 mutation. mutation identified by direct sequencing, high resolution melting analysis or high-throughput microarray-based resequencing system. Microsatellite polymorphic markers flanking were genotyped in members six kindreds two...
Mutations in SOD1 cause approximately 12–25% of familial ALS and ≈2% apparently sporadic cases. Clinical phenotypes linked to mutations are heterogeneous intra-familial variability the clinical phenotype is frequently observed. L144S mutation, identified also Brazil, Iran United States, second most frequent mutation among patients Poland. So far, 10 FALS pedigrees with have been reported worldwide. The aim study was establish origin geographically distinct populations. presentation Polish...
AMA Wierzba-Bobrowicz T, Lewandowska E, Zaremba J, et al. Case reportFrontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report. Folia Neuropathologica. 2014;52(4):457-466. doi:10.5114/fn.2014.47848. APA Wierzba-Bobrowicz, T., Lewandowska, E., Zaremba, J., Berdyński, M., Żekanowski, C., & Stępień, T. (2014). Neuropathologica, 52(4), 457-466. https://doi.org/10.5114/fn.2014.47848 Chicago Teresa, Eliza Jacek Mariusz Cezary Tomasz and Paulina Felczak 2014....
Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed variants in two genes related mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) a group of 890 athletes (320 endurance, 265 power, 305 combat athletes) vs. 1009 sedentary controls. Genotyping selected SNPs was performed using TaqMan SNP genotyping assays. codes for norepinephrine transporter, protein involved modulating mood, arousal, memory,...
Mutations in the superoxide dismutase-1 (SOD1) gene have been found 12–23% of patients with a diagnosis ALS. Here we describe large ALS Polish family branch France, carrying G41S mutation SOD1, and characterized by an early onset disease extremely short survival time. The has initially detected Italian families common founder effect. However, population most probably originated from independent event, as indicated haplotype analysis. Collected data support hypothesis that SOD1 is not sole...
ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of genome-wide association studies has indicated that locus associated with keratoconus. In this study, we examined potential role variants as risk factors for keratoconus incidence severity a large group Polish patients. first stage analyzed coding region sequence subgroup Then, genotyped three selected larger KC patients (n = 261) healthy controls 317). We found rs1042183...
First reports associated mutations in triggering receptors expressed on myeloid cells 2 (TREM2) with autosomal recessive Nasu-Hakola disease characterized by painful bone cysts and progressive presenile dementia psychotic symptoms; however, recent TREM2 biallelic rare variants are suggested to be causative also for the behavioral variant of frontotemporal (bvFTD) without involvement.
In all sport disciplines, excellent coordination of movements is crucial for achieving mastery. The ability to learn new motor skills quickly and effectively dependent on efficient myelination which varies between individuals. It has been suggested that these differences may play a role in athletic performance. process under transcriptional control by Myelin Regulatory Factor (MYRF) as well other transcription factors (SOX10 OLIG2). We analyze panel 28 single nucleotide polymorphisms (SNPs)...