A5023596897- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Alcoholism and Thiamine Deficiency
- Cerebrospinal fluid and hydrocephalus
- Vestibular and auditory disorders
- Ophthalmology and Eye Disorders
- Traumatic Brain Injury Research
- Metabolomics and Mass Spectrometry Studies
- Neurological and metabolic disorders
- Amyotrophic Lateral Sclerosis Research
- Nuclear Receptors and Signaling
- Prion Diseases and Protein Misfolding
- Botulinum Toxin and Related Neurological Disorders
- Cancer, Hypoxia, and Metabolism
- Adipose Tissue and Metabolism
- Medicine and Dermatology Studies History
- Hereditary Neurological Disorders
- Glioma Diagnosis and Treatment
Haukeland University Hospital
2015-2025
University of Bergen
2013-2025
Abstract Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates the human brain with neurodegenerative disorders such as Parkinson disease (PD). Here, we study complete spectrum of changes, including deletions, copy-number variation point mutations, single neurons from dopaminergic substantia nigra other areas individuals neurologically healthy controls. We show that individuals, copy number increases age, maintaining pool...
Mitochondrial complex I deficiency occurs in the substantia nigra of individuals with Parkinson's disease. It is generally believed that this phenomenon caused by accumulating mitochondrial DNA damage neurons and it contributes to process neurodegeneration. We hypothesized if these theories are correct, should extend beyond other affected brain regions disease correlate tightly neuronal damage. To test our hypothesis, we employed a combination semiquantitative immunohistochemical analyses,...
ABSTRACT Background Whether antidiabetic glitazone drugs protect against Parkinson's disease remains controversial. Although a single clinical trial showed no evidence of modulation, retrospective studies suggest that disease‐preventing effect may be plausible. The objective this study was to examine if the use is associated with lower incidence PD among diabetic patients. Methods We compared between individuals diabetes who used glitazones, or without metformin, and using only metformin in...
Abstract Idiopathic Parkinson’s disease (iPD) is believed to have a heterogeneous pathophysiology, but molecular subtypes not been identified. Here, we show that iPD can be stratified according the severity of neuronal respiratory complex I (CI) deficiency, and identify two emerging with distinct clinical profiles. The CI deficient (CI-PD) subtype accounts for approximately fourth all cases, characterized by anatomically widespread cell type-specific gene expression profile, increased load...
Invasion and angiogenesis are major hallmarks of glioblastoma (GBM) growth. While invasive tumor cells grow adjacent to blood vessels in normal brain tissue, within neovascularized regions exhibit hypoxic stress promote angiogenesis. The distinct microenvironments likely differentially affect metabolic processes the cells.In present study, we analyzed gene expression changes a human GBM xenograft model that displayed angiogenic phenotypes. In addition, used glioma patient biopsies confirm...
Mitochondrial DNA (mtDNA) deletions accumulate with age in postmitotic cells and are associated aging neurodegenerative disorders such as Parkinson's disease. Although the exact mechanisms by which form remain elusive, dominant theory is that they arise spontaneously at microhomologous sites undergo clonal expansion. We characterize mtDNA unprecedented resolution individual substantia nigra neurons from individuals disease, using ultradeep sequencing. show number of deleted species per...
Parkinson's disease (PD) is the most common age-dependent neurodegenerative synucleinopathy. Loss of dopaminergic neurons substantia nigra pars compacta, together with region- and cell-specific aggregations α -synuclein are considered main pathological hallmarks PD, but its etiopathogenesis remains largely unknown. Mitochondrial dysfunction, in particular quantitative and/or functional deficiencies mitochondrial respiratory chain (MRC), has been associated disease. However, after decades...
Abstract Background Widespread neuronal mitochondrial complex I (CI) deficiency was recently reported to be a characteristic in subgroup of individuals with idiopathic Parkinson’s disease (PD). Here, we sought determine whether CI-deficient could discerned using clinically accessible muscle biopsies. We further hypothesized that the inconsistency previous findings respiratory impairment PD may due interindividual variation, only occurring cases. Methods Using cross-sectional design, vastus...
Idiopathic Parkinson’s disease (iPD) is characterized by degeneration of the dopaminergic substantia nigra pars compacta (SNc), typically in presence Lewy pathology (LP) and mitochondrial respiratory complex I (CI) deficiency. LP driven α-synuclein aggregation, morphologically evolving from early punctate inclusions to bodies (LBs). The relationship between aggregation CI deficiency iPD poorly understood. While studies models suggest they are causally linked, observations human SNc show that...
Background Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although inherited an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous have been reported. This makes diagnosis uncertain and may delay treatment. Methods Results In two siblings early-onset encephalopathy dystonia epilepsy, whole-exome sequencing revealed novel mutation (c.337T>C). Sanger-sequencing...
Abstract Mitochondrial dysfunction has been implicated in multiple neurodegenerative diseases but remains largely unexplored Creutzfeldt-Jakob disease. Here, we characterize the mitochondrial respiratory chain at individual neuron level MM1 and VV2 common molecular subtypes of sporadic Moreover, investigate associations between neuropathological markers Brain tissue from individuals with disease age-matched controls were obtained brain collection Austrian Surveillance. The was studied...
Arachnoid cysts (AC) are benign, congenital malformations of the leptomeninges, with a predilection for temporal fossa. In our clinical experience, patients AC often complain dizziness and imbalance. However, these symptoms effect surgery on them have not been studied before.Dizziness imbalance in were quantified before after surgical cyst decompression, using Dizziness Handicap Inventory (DHI), Vertigo Symptom Scale - Short-Form (VSS-SF) computerized dynamic posturography (CDP). The study...
Background Arachnoid cysts (AC) are benign, congenital malformations of the leptomeninges. In our experience, dizziness and vertigo common complaints in patients with such cysts. Objective To quantify imbalance arachnoid posterior fossa using Dizziness Handicap Inventory (DHI), Vertigo Symptom Scale Short–Form (VSS-SF) Computerized Dynamic Posturography (CDP). We also wanted to investigate whether any reversible after surgical cyst decompression. Methods The study includes four AC (two...
Abstract Widespread neuronal complex I (CI) deficiency was recently reported to be a characteristic in subgroup of individuals with idiopathic Parkinson’s disease (PD). Here, we sought determine whether CI deficient could discerned using clinically accessible muscle biopsy. Vastus lateralis needle biopsies were collected from 83 PD and 29 neurologically healthy controls analyzed by immunohistochemistry for complexes IV, cytochrome c oxidase/succinate dehydrogenase (COX/SDH) histochemistry,...
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Abstract Idiopathic Parkinson’s disease (iPD) is believed to have a heterogeneous pathophysiology, but molecular subtypes not been identified. Here, we show that iPD can be stratified according the severity of neuronal respiratory complex I (CI) deficiency, and identify two emerging with distinct clinical profiles. The CI deficient (CI-PD) subtype accounts for approximately fourth all cases, characterized by anatomically widespread cell type-specific gene expression profile, increased load...