A5055808096- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Neurological diseases and metabolism
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering
- Cellular Mechanics and Interactions
- Amyotrophic Lateral Sclerosis Research
- Cardiomyopathy and Myosin Studies
- Diabetes and associated disorders
- Metabolism and Genetic Disorders
- Ethics in Clinical Research
- RNA regulation and disease
- Nuclear Structure and Function
- Endoplasmic Reticulum Stress and Disease
- BRCA gene mutations in cancer
- Mitochondrial Function and Pathology
- Reproductive Health and Technologies
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Pancreatic function and diabetes
University of Helsinki
2016-2023
Helsinki University Hospital
2018-2023
Tampere University Hospital
2018
Institute for Molecular Medicine Finland
2018
Tampere University
2018
Neurosciences Institute
2018
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations recessive nonsense in neurofilament gene (
Mesencephalic astrocyte-derived neurotrophic factor (MANF) was recently shown to be essential for the survival and proliferation of pancreatic β-cells in mice, where deletion MANF resulted diabetes. The current study aimed at determining whether concentration circulating is associated with clinical manifestation human type 1 diabetes (T1D). expression T1D or levels serum have not been previously studied. We developed an enzyme-linked immunosorbent assay (ELISA) measured concentrations from...
Clinical diagnostics in adults with hereditary neurological diseases is complicated by clinical and genetic heterogeneity, as well lifestyle effects. Here, we evaluate the effectiveness of exome sequencing costs our difficult-to-diagnose adult patient cohort. Additionally, expand phenotypic spectrum disorders Finland.We performed (CES) to 100 patients from Finland symptoms suspected cause. The were classified myopathy (n = 57), peripheral neuropathy 16), ataxia 15), spastic paraplegia 4),...
<h3>Objective</h3> We used patient-specific neuronal cultures to characterize the molecular genetic mechanism of recessive nonsense mutations in neurofilament light (<i>NEFL</i>) underlying early-onset Charcot-Marie-Tooth (CMT) disease. <h3>Methods</h3> Motor neurons were differentiated from induced pluripotent stem cells a patient with CMT carrying novel homozygous mutation <i>NEFL</i>. Quantitative PCR, protein analytics, immunocytochemistry, electron microscopy, and single-cell...
Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy axonal neuropathy Parkinson's disease. They form a complex of unknown function. Here we address the importance these two human neurons. We show that gene edited induced pluripotent stem cells (iPSC) lacking either or are viable can be differentiated into functional neurons fire spontaneous evoked action potentials. Mitochondria...
To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.Whole exome sequencing was performed for neuromuscular disease patients with no molecular diagnosis. Patients underwent clinical characterization, lower limb muscle MRI, biopsy and spirometry. A yeast complementation assay used determine biochemical consequences of genetic variants.We identified four...
Abstract Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes neurological diseases with a range phenotypes from Leigh syndrome and NARP to ataxias neuropathies. Here we investigated the functional consequences an unusual heteroplasmic truncating mutation m.9154C&gt;T which caused peripheral neuropathy, ataxia IgA nephropathy. synthase not only generates cellular ATP, but its dimerization is required for cristae formation. Accordingly, MT-ATP6...
Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia weakness, their biopsies often showing fibre size disproportion nemaline bodies. Here, we describe a series of patients hypercontractile molecular phenotypes, high tone, mostly non-specific myopathic biopsy findings without Three the had trismus, whilst one patient, distal joints her fingers flexed on extension wrists. In from patient rare variant, cores minicores were...
Abstract This study examines how parents of pediatric patients might differ in their views and attitudes towards genetic technology information when compared to adult patients. There is surprisingly little evidence on compare other parts population attitudes. Previous empirical studies often relate health-related preferences factors such as age, education, income instead parental status, thus evading comparison others decision makers. Findings related the status can be useful implementing...
ABSTRACT Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in diseases affecting motor neurons such as amyotrophic lateral sclerosis, spinal muscular atrophy axonal neuropathy Parkinson’s disease, form a complex of unknown function. Here we address the importance these two human neurons. We show that gene edited induced pluripotent stem cells (iPSC) lacking either or are viable can be differentiated into functional fire spontaneous evoked action potentials. Knockout...
SUMMARY Loss-of-function of the mRNA export protein GANP ( MCM3AP gene) cause early-onset sensorimotor neuropathy, characterised by axonal degeneration in long peripheral nerves. functions as a scaffold at nuclear pore complexes, contributing to selective mRNAs. Here, we aimed identify motor neuron specific transcripts that are regulated and may be limiting for local synthesis axons. We compared neurons with gene edited mutation Sac3 binding domain isogenic controls. also examined...