A5014031611- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Neurotransmitter Receptor Influence on Behavior
- Neurological diseases and metabolism
- Cystic Fibrosis Research Advances
- Reproductive Health and Technologies
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Ethics in Clinical Research
- Hereditary Neurological Disorders
- BRCA gene mutations in cancer
- Neuroendocrine regulation and behavior
- Neuroscience and Neuropharmacology Research
- RNA regulation and disease
- RNA and protein synthesis mechanisms
University of Helsinki
2018-2024
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),...
Extrasynaptic δ subunit-containing γ-aminobutyric acid type A receptors (δ-GABAA Rs) are emerging as targets for a number of neuropsychopharmacological drugs, including the direct GABA site agonist gaboxadol and neuroactive steroids. Among other regions, these δ-GABAA Rs functionally expressed in ventral tegmental area (VTA), cell body region mesocorticolimbic dopamine (DA) system important motivated behaviours, target region, nucleus accumbens. Gaboxadol neurosteroids induce VTA DA neuron...
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 Background The aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders suspected genetic etiology. Methods We studied 48 probands (age range from newborn 17 years old) unknown etiology largest pediatric neurology clinic Finland. Phenotypes included encephalopathy (54%), neuromuscular (33%), movement (11%), and one patient (2%) hemiplegic migraine. All underwent whole-exome sequencing disease-causing genes were...
Myopathy is a common manifestation in mitochondrial disorders, but the pathomechanisms are still insufficiently studied children. Here, we report severe, progressive myopathy four-year-old child, who died at eight years. He developed loss of muscle strength with nocturnal hypoventilation and dilated cardiomyopathy. Skeletal showed ragged red fibers severe combined respiratory chain deficiency. Mitochondrial DNA sequencing revealed novel m.5670A>G mutation tRNAAsn (MTTN) 88% heteroplasmy...