Mikko Hiltunen
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View article: Genetic Validation of ABI3 p.S209F Variant and Its effects On Early Brain Pathology in Asymptomatic Elderly Individuals
Genetic Validation of ABI3 p.S209F Variant and Its effects On Early Brain Pathology in Asymptomatic Elderly Individuals Open
Background: Alzheimer’s disease (AD) has a strong genetic component, with APOE ε4 being the most established risk factor through its effects on beta-amyloid (Aβ) metabolism and microglial function. Recent genetic studies have also implicat…
View article: The protective <i>PLCG2</i> variants delay Alzheimer’s disease onset age in <i>APOE ε</i>4 carriers
The protective <i>PLCG2</i> variants delay Alzheimer’s disease onset age in <i>APOE ε</i>4 carriers Open
INTRODUCTION We investigated the impact of protective PLCG2 -P522R and PLCG2 -3’UTR variants, and the TREM2 -R62H risk variant on Alzheimer’s disease (AD) onset age in relation to APOE ε4 status. Plasma-based biomarkers of the different va…
View article: Alzheimer and cardiovascular genetic scores and cognition: the FINGER randomized controlled trial
Alzheimer and cardiovascular genetic scores and cognition: the FINGER randomized controlled trial Open
Alzheimer's disease and coronary artery disease are common late-life chronic conditions and share multiple risk factors, including Apolipoprotein E (APOE) ε4 allele. A meta-analysis of two multidomain lifestyle intervention trials indicate…
View article: Cross‐sectional study of plasma phosphorylated tau 217 in persons without dementia
Cross‐sectional study of plasma phosphorylated tau 217 in persons without dementia Open
INTRODUCTION Little is known about plasma phosphorylated tau 217 (p‐tau217) in individuals without a clinical diagnosis of Alzheimer's disease (AD). We studied associations of plasma p‐tau217 with age, sex, education, and genetic risk; est…
View article: Effect of ventricular volume on cerebrospinal fluid Alzheimer's disease biomarkers in patients with idiopathic normal pressure hydrocephalus
Effect of ventricular volume on cerebrospinal fluid Alzheimer's disease biomarkers in patients with idiopathic normal pressure hydrocephalus Open
Background Idiopathic normal pressure hydrocephalus (iNPH) is a common disorder in aging populations. Alzheimer's disease (AD) is a significant comorbidity in iNPH patients, and the presence of AD pathology is associated with worse shuntin…
View article: Inflammation-induced lysosomal dysfunction in human iPSC-derived microglia is exacerbated by APOE 4/4 genotype
Inflammation-induced lysosomal dysfunction in human iPSC-derived microglia is exacerbated by APOE 4/4 genotype Open
Background. The ε4 isoform of apolipoprotein E (ApoE) is the most significant genetic risk factor for Alzheimer’s disease. Glial cells are the main source of ApoE in the brain, and in microglia, the ε4 isoform of ApoE has been shown to imp…
View article: The protective PLCγ2-P522R variant mitigates Alzheimer’s disease-associated pathologies by enhancing beneficial microglial functions
The protective PLCγ2-P522R variant mitigates Alzheimer’s disease-associated pathologies by enhancing beneficial microglial functions Open
View article: Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study
Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study Open
We studied the iNPH-associated CWH43 LOF variants for the first time on a population-scale. Contrary to previously reported findings in smaller cohorts, our study revealed a low prevalence of these variants in the population-scale Finnish …
View article: Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations Open
View article: <i>C9orf72</i>repeat expansion-carrying iPSC-microglia from FTD patients show increased phagocytic activity concomitantly with decreased number of autophagosomal-lysosomal vesicles
<i>C9orf72</i>repeat expansion-carrying iPSC-microglia from FTD patients show increased phagocytic activity concomitantly with decreased number of autophagosomal-lysosomal vesicles Open
C9orf72 hexanucleotide repeat expansion (HRE) is a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. The role of microglia in these C9orf72 HRE-associated diseases is understudied. To elucidate effects of C9…
View article: Synapse protein signatures in cerebrospinal fluid and plasma predict cognitive maintenance versus decline in Alzheimer’s disease
Synapse protein signatures in cerebrospinal fluid and plasma predict cognitive maintenance versus decline in Alzheimer’s disease Open
Rates of cognitive decline in Alzheimer’s disease (AD) are extremely heterogeneous, with ages of symptom onset ranging from age 40-100 years and conversion from mild cognitive impairment to AD dementia taking 2-20 years. Development of bio…
View article: TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease
TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease Open
Introduction A better understanding of the earliest stages of Alzheimer’s disease (AD) could expedite the development or administration of treatments. Large population biobanks hold the promise to identify individuals at an elevated risk o…
View article: Neuronal downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease hallmarks
Neuronal downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease hallmarks Open
We developed a high content screening to investigate how Alzheimer disease (AD) genetic risk factors may impair synaptic mechanisms in rat primary neuronal cultures. Out of the gene targets identified, we found that shRNA-mediated downregu…
View article: Cross-sectional study of plasma phosphorylated Tau 217 in persons without dementia
Cross-sectional study of plasma phosphorylated Tau 217 in persons without dementia Open
Importance Blood levels of phosphorylated tau 217 (p-tau217) as measured by commercially available immunoassays are an emerging tool to assess Alzheimer’s disease (AD) pathology. Little is known about the performance of p-tau217 and contri…
View article: Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial
Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial Open
INTRODUCTION We assessed a genetic risk score for Alzheimer's disease (AD‐GRS) and apolipoprotein E ( APOE4 ) in an exploratory neuroimaging substudy of the FINGER trial. METHODS 1260 at‐risk older individuals without dementia were randomi…
View article: Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women Open
PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic ris…
View article: DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2
DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2 Open
Treatment-induced neuroendocrine prostate cancer (t-NEPC) is a lethal subtype of castration-resistant prostate cancer resistant to androgen receptor (AR) inhibitors. Our study unveils that AR suppresses the neuronal development protein dih…
View article: Cerebrospinal Fluid Biomarkers of Neurodegeneration in Idiopathic Normal Pressure Hydrocephalus
Cerebrospinal Fluid Biomarkers of Neurodegeneration in Idiopathic Normal Pressure Hydrocephalus Open
View article: Association of <i>MGMT</i> and <i>BIN1</i> genes with Alzheimer's disease risk across sex and <i>APOE</i> ε4 status
Association of <i>MGMT</i> and <i>BIN1</i> genes with Alzheimer's disease risk across sex and <i>APOE</i> ε4 status Open
Chung et al. reported a novel association of the Alzheimer's disease (AD) risk with genetic variants in the MGMT gene in women.1 The genome-wide significant signals were found in women lacking the apolipoprotein E ε4 allele (APOEε4-) from …
View article: Alzheimer’s disease genetic risk score and neuroimaging biomarkers in the FINGER multidomain lifestyle randomized controlled trial
Alzheimer’s disease genetic risk score and neuroimaging biomarkers in the FINGER multidomain lifestyle randomized controlled trial Open
Background A comprehensive genetic risk score (GRS) for Alzheimer’s disease (AD‐GRS) was recently developed based on 83 genome‐wide significant variants (Bellenguez et al. Nat Genet . 2022), excluding APOE. This study investigated AD‐GRS a…
View article: NTHL1 is a recessive cancer susceptibility gene
NTHL1 is a recessive cancer susceptibility gene Open
In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Ge…
View article: TWINGEN – protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer’s disease
TWINGEN – protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer’s disease Open
Introduction A better understanding of the earliest stages of Alzheimer’s disease (AD) could expedite the development or administration of treatments. Large population biobanks hold the promise to identify individuals at an elevated risk o…
View article: UNVEIL PERICYTE INVOLVEMENT IN VASCULAR DYSFUNCTION IN ALZHEIMER'S DISEASE USING AN IPSC-DERIVED MODEL
UNVEIL PERICYTE INVOLVEMENT IN VASCULAR DYSFUNCTION IN ALZHEIMER'S DISEASE USING AN IPSC-DERIVED MODEL Open
View article: Cognitive and biomarker responses in healthy older adults to a 18-hole golf round and different walking types: a randomised cross-over study
Cognitive and biomarker responses in healthy older adults to a 18-hole golf round and different walking types: a randomised cross-over study Open
Introduction The global burden of age-related cognitive decline is increasing, with the number of people aged 60 and over expected to double by 2050. This study compares the acute effects of age-appropriate cognitively demanding aerobic ex…
View article: Treatment of Status Epilepticus after Traumatic Brain Injury Using an Antiseizure Drug Combined with a Tissue Recovery Enhancer Revealed by Systems Biology
Treatment of Status Epilepticus after Traumatic Brain Injury Using an Antiseizure Drug Combined with a Tissue Recovery Enhancer Revealed by Systems Biology Open
We tested a hypothesis that in silico-discovered compounds targeting traumatic brain injury (TBI)-induced transcriptomics dysregulations will mitigate TBI-induced molecular pathology and augment the effect of co-administered antiseizure tr…
View article: Early Alzheimer’s disease pathology in human cortex involves transient cell states
Early Alzheimer’s disease pathology in human cortex involves transient cell states Open
View article: An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration
An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration Open
Genome-wide association studies identified a role for TMEM106B in various neurodegenerative diseases. Based on long-read whole-genome sequencing data of 256 individuals, we identified an AluYb8 retrotransposon in the 3’ UTR of the risk hap…
View article: Cerebrospinal Fluid Diagnostics of Alzheimer’s Disease in Patients with Idiopathic Normal Pressure Hydrocephalus
Cerebrospinal Fluid Diagnostics of Alzheimer’s Disease in Patients with Idiopathic Normal Pressure Hydrocephalus Open
Background: Alzheimer’s disease (AD) is the most common cause of dementia worldwide and a frequent comorbidity in idiopathic normal pressure hydrocephalus (iNPH). The presence of AD pathology is associated with worse outcomes after a shunt…
View article: The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections
The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections Open
View article: Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals
Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals Open
Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to ∼30% of men over 60 years suffer from this condition in n…