The Apo gene's genetic variants: hidden role in Asian vascular risk
AbstractVascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with implications extending to neuropsychiatric disorders such as stroke and Alzheimer's disease. The Asian population, in particular, appears to be disproportionately affected due to unique genetic predispositions, as well as epigenetic factors such as dietary patterns and lifestyle habits. Existing management strategies often fall short of addressing these specific needs, leading to greater challenges in prevention and treatment. This review highlights a significant gap in our understanding of the...
Source: Neurogenetics - April 16, 2024 Category: Genetics & Stem Cells Source Type: research
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classicalTBP allelic ranges. (Source: Neurogenetics)
Source: Neurogenetics - April 16, 2024 Category: Genetics & Stem Cells Source Type: research
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
AbstractDevelopmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnormalities, often arising from mutations in genes crucial for brain function. Among these genes,GLS stands out due to its vital role in the central nervous system (CNS), with homozygous variants potentially causing DEE type 71. Using Whole Exome Sequencing (WES) on a patient exhibiting symptoms of epileptic encephalopathy, we identified a novel homozygous variant, NM_014905.5:c.1849G > T; p.(Asp617Tyr), in theGLS gene. The 5-year-old patient, born to consanguineous parents, presented with ...
Source: Neurogenetics - April 15, 2024 Category: Genetics & Stem Cells Source Type: research
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression.A 60-year-old male presented with significant behavioral changes and progressed rapidly, exhibiting speech difficulties and cognitive decline. Neuroimaging via FDG-PET revealed asymmetrical frontotemporal hypometabolism. Three siblings subsequently showed varied but consistent clinica...
Source: Neurogenetics - April 9, 2024 Category: Genetics & Stem Cells Source Type: research
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Abstract Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously ...
Source: Neurogenetics - March 19, 2024 Category: Genetics & Stem Cells Source Type: research
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
We described a child who is compound heterozygous for two novel variants in theMOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG. (Source: Neurogenetics)
Source: Neurogenetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
This study aimed to assess the transferability of differentially expressed genes (DEGs) in neuronal cells related to pathogenic variants in theTHAP1 gene, which were previously identified by transcriptome analyses. For this, we performed quantitative (qPCR) and Digital PCR (dPCR) in cultured fibroblasts. RNA was extracted from THAP1 manifesting (MMCs) and non-manifesting mutation carriers (NMCs) as well as from healthy controls. The expression profiles of ten of 14 known neuronal DEGs demonstrated differences in fibroblasts between these three groups. This included transcription factors and targets (ATF4,CLN3,EIF2A, RRM1, ...
Source: Neurogenetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
We described a child who is compound heterozygous for two novel variants in theMOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG. (Source: Neurogenetics)
Source: Neurogenetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
This study aimed to assess the transferability of differentially expressed genes (DEGs) in neuronal cells related to pathogenic variants in theTHAP1 gene, which were previously identified by transcriptome analyses. For this, we performed quantitative (qPCR) and Digital PCR (dPCR) in cultured fibroblasts. RNA was extracted from THAP1 manifesting (MMCs) and non-manifesting mutation carriers (NMCs) as well as from healthy controls. The expression profiles of ten of 14 known neuronal DEGs demonstrated differences in fibroblasts between these three groups. This included transcription factors and targets (ATF4,CLN3,EIF2A, RRM1, ...
Source: Neurogenetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research
Gene –gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
AbstractTwin and family studies have established the genetic contribution to idiopathic generalized epilepsy (IGE). The genetic architecture of IGE is generally complex and heterogeneous, and the majority of the genetic burden in IGE remains unsolved. We hypothesize that gene –gene interactions contribute to the complex inheritance of IGE.CNTN2 (OMIM* 615,400) variants have been identified in cases with familial adult myoclonic epilepsy and other epilepsies. To explore the gene –gene interaction network in IGE, we took theCNTN2 gene as an example and investigated its co-occurrent genetic variants in IGE cases. We perfo...
Source: Neurogenetics - March 9, 2024 Category: Genetics & Stem Cells Source Type: research
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
This study revealed for the first time that Smith-Magenis syndrome,SCN8A-related DEE type 13 andSLC12A5 gene variation are involved in the genetic etiology of (D)EE-SWAS. (D)EE-SWAS is a genetically diverse disorder with underlying copy number variations and single-gene abnormalities. In the current investigation, rare novel variations in genes known to be related to (D)EE-SWAS and not previously reported genes to be related to (D)EE-SWAS were discovered, adding to the molecular genetic spectrum. Molecular etiology enables the patient and family to receive thorough and accurate genetic counseling as well as a personalized ...
Source: Neurogenetics - February 22, 2024 Category: Genetics & Stem Cells Source Type: research
