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Affymetrix 6.0 study of sporadic motor neuron disease patients and controls.

ABSTRACT: This data was divided into three experiment sets: 1. A somatic study of sporadic motor neuron disease (SMND) brain samples that were compared to the blood from the same individual, normal control brains and disease control brans (Parkinson Disease patients); 2. A twin study comparing blood and other tissue samples from twins that were discordant for MND, concordant for MND and control twins and 3. A trio study of blood samples MND patients compared to their unaffected parents. Study 1: 36 sporadic motor neuron disease brain (lateral frontal cortex, Brodmann area 46), 34 matched sporadic motor neuron disease blood, 26 control brain (lateral frontal cortex, Brodmann area 46), 9 Parkinson Disease brain (disease controls, lateral frontal cortex, Brodmann area 46). Study 2 and study 3: 52 twin or trio blood, 4 twin hair, 1 twin sperm. 2 replicate twin blood and 1 replicate trio blood repeated at a different time. External control blood from Coriell GM15510 and GM10851.

ORGANISM(S): Homo sapiens

SUBMITTER: Roger Pamphlett

PROVIDER: E-GEOD-15826 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Affymetrix 6.0 study of sporadic motor neuron disease patients and controls.

Project description:This data was divided into three experiment sets: 1. A somatic study of sporadic motor neuron disease (SMND) brain samples that were compared to the blood from the same individual, normal control brains and disease control brans (Parkinson Disease patients); 2. A twin study comparing blood and other tissue samples from twins that were discordant for MND, concordant for MND and control twins and 3. A trio study of blood samples MND patients compared to their unaffected parents.

2010-07-31 | GSE15826 | GEO

DNA methylome analysis of human peripheral blood samples in cancer discordant monozygotic twin-pairs

Project description:Genome wide DNA methylation profiling with the HumanMethylation450 BeadChip (450k) of peripheral blood samples of 46 adult female monozygotic twin-pairs obtained at the same time point. Samples included 41 healthy females (not diagnosed with cancer to date) paired with their co-twin diagnosed with cancer within a 5 year window around the time of sampling as well as 5 extra pairs with a co-twin diagnosed with cancer within 11 to 5 years prior to blood sampling.

2016-10-25 | GSE89093 | GEO

Peripheral Blood Cells Gene Expression Profiles from Discordant Monozygotic Twins with Systemic Autoimmune disease (SAIDs)

Project description:Gene expression profiling in peripheral blood cells from monozygotic twin pairs with various sytemic autoimmune diseases revealed 92 genes that could discriminate between MZ twin pairs and unrelated-matched controls. No genes were found that could discriminate between proband and unaffected twin pairs, or between the various disease phenotypes.

2010-12-30 | GSE24060 | GEO

Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [spatial transcriptomics]

Project description:The heterogeneous etiology of Alzheimer’s disease (AD) challenges therapeutic development. Understanding cell type specificity and local spatial contributions to different AD etiologies is instrumental to optimize therapeutic strategies for precision medicine. In this study, we compared cell-specific transcriptomes from the frontal cortex of carriers with the autosomal dominant mutation, PSEN1-E280A, sporadic AD and controls. Among the pathways that distinguished the autosomal dominant AD mutation disease from sporadic AD was increased autophagy and proteostasis pathways in astrocytes and oligodendrocytes in the former. Synaptic genes associated with neurofibrillary tangles in excitatory neurons were increased in both sporadic AD and mutation carriers. Spatial transcriptomics in samples from frontal cortex and CA1 hippocampus in PSEN1-E280A cases compared to non-diseased control individuals further validated the activation of chaperone-mediated autophagy genes and NFT-associated genes in E280A cases compared to controls. In conclusion, although autosomal dominant Alzheimer’s disease (ADAD) and sporadic AD share many features, the uniqueness of the cellular responses in each condition must be taken into consideration when designing clinical studies and therapeutics.

2024-02-28 | GSE221365 | GEO

Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [snRNA-seq]

Project description:The heterogeneous etiology of Alzheimer’s disease (AD) challenges therapeutic development. Understanding cell type gene expression specificity and local spatial contributions to different AD etiologies is instrumental to optimize therapeutic strategies for precision medicine. In this study, we compared cell-specific transcriptomes from the frontal cortex of carriers with the autosomal dominant mutation, PSEN1-E280A, Sporadic AD and Controls. Among the pathways that distinguished the autosomal dominant AD mutation disease from sporadic AD was increased autophagy and proteostasis pathways in astrocytes and oligodendrocytes in the former. Synaptic genes associated with neurofibrillary tangles in excitatory neurons were increased in both sporadic AD and mutation carriers. Spatial transcriptomics in samples from frontal cortex and CA1 hippocampus in PSEN1-E280A cases compared to non-diseased control individuals further validated the activation of chaperone-mediated autophagy genes and NFT-associated genes in E280A cases compared to controls. In conclusion, although autosomal dominant Alzheimer’s disease (ADAD) and sporadic AD share many features, the uniqueness of the cellular responses in each condition must be taken into consideration when designing clinical studies and therapeutics.

2024-02-28 | GSE222494 | GEO

DNA methylation in peripheral blood from individuals with Crohns' disease or ulcerative colitis and normal controls

Project description:Genome wide DNA methylation profiling of Crohn's disease, ulcerative colitis, and normal peripheral blood samples. The Illumina Infinium HumanMethylation450 BeadChip v1.1 was used to obtain DNA methylation profiles across 482,421 CpGs in peripheral blood samples. Samples came from 17 Crohn's disease affected, 11 ulcerative colitis affected, and 20 normal individuals. Within these samples were three twin sets discordant for Crohn's disease and three twin sets discordant for ulcerative colitis.

2012-04-05 | GSE32148 | GEO

Sporadic Amyotrophic Lateral Sclerosis (ALS): Sequencing Study

Project description:<p>Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects the nerves in the brain and spinal cord, leading to muscle weakening and eventual paralysis and death. Ten percent of ALS cases are thought to be familial while the majority of cases are sporadic and the causative factors unknown. Dr. Roger Pamphlett of the University of Sydney has collected a unique cohort of consented trios where the child has ALS but the parents are unaffected. Since the age of onset is so late, it is very difficult to obtain this kind of trio. We have performed whole exome sequencing on these trios to identify <i>de novo</i> and recessive germline variants associated with sporadic ALS. In addition, Dr. Pamphlett has assembled a collection of consented discordant monozygotic twins, where one twin has ALS and the other is unaffected. We performed whole genome sequencing on these twin pairs to identify postzygotic variants that may contribute to sporadic ALS susceptibility. Finally, we have the opportunity to compare the sequence and gene expression in affected and unaffected tissues from blood, brain and/or spinal cord samples from consented ALS patients to look for somatic mutations or gene expression changes that may further our understanding of the disease.</p>

| phs000831 | dbGaP

Hypermethylation in the ZBTB20 gene is associated with major depressive disorder

Project description:Genome-wide MeDIP-Sequencing of 23 monozygotic twin pairs (n=46) from Australia discordant for major depressive disorder (MDD). MeDIP-seq of 23 monozygotic twin pairs discordant for major depressive disorder. MZ twin pairs were compared to identify significantly differently methylated sites associated with MDD.

2014-01-25 | E-GEOD-54370 | biostudies-arrayexpress

Hypermethylation in the ZBTB20 gene is associated with major depressive disorder

Project description:Genome-wide MeDIP-Sequencing of 23 monozygotic twin pairs (n=46) from Australia discordant for major depressive disorder (MDD).

2014-01-25 | GSE54370 | GEO

Histone ChIP-seq from middle frontal area 46 (ENCSR888EEH)

Project description:H3K4me3 ChIP-seq on middle frontal area 46 tissue female adult (89 years) with Alzheimer's disease For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODE_Data_Use_Policy_for_External_Users_03-07-14.pdf

2022-07-22 | GSE209503 | GEO

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