New research on Fragile X syndrome reinforces importance of early detection

(Vanderbilt University) New insights into the long-lasting effects of Fragile X syndrome on connections in the brain during early development highlight the importance of early detection and treatment.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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Publication date: 20 September 2018Source: Cell, Volume 175, Issue 1Author(s): Benoit G. Bruneau, Elphège P. NoraTAD boundaries are insulators of genomic neighborhoods. In this issue, Sun et al. show that disease-associated tandem repeats are located to TAD boundaries and affect their insulation. The findings have important implications for TAD function and mechanisms underlying diseases such as fragile X syndrome and Huntington’s disease.
Source: Cell - Category: Cytology Source Type: research
Fragile X syndrome is caused by the loss of fragile X mental retardation protein (FMRP). Kainate receptor (KAR) is a subfamily of ionotropic glutamate receptors (iGluR) that acts mainly as a neuromodulator of ...
Source: Molecular Brain - Category: Neuroscience Authors: Tags: Research Source Type: research
Publication date: Available online 19 September 2018Source: Neuroscience ResearchAuthor(s): Shumaia Parvin, Renoma Takeda, Yu Sugiura, Makiko Neyazaki, Terukazu Nogi, Yukio SasakiAbstractFragile X mental retardation protein (FMRP), a causative gene (FMR1) product of Fragile X syndrome (FXS), is an RNA-binding protein to regulate local protein synthesis in dendrites for postsynaptic functions. However, involvement of FMRP in local protein synthesis in axons for presynaptic functions remains unclear. Here we investigated role of FMRP in local translation of the active zone protein Munc18-1 during presynapse formation. We fou...
Source: Neuroscience Research - Category: Neuroscience Source Type: research
ConclusionsEE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
(University of Pennsylvania) Researchers at the University of Pennsylvania have found a new common thread linking nearly all of the trinucleotide repeat expansion diseases, which include ALS, Huntington's Disease and Fragile X Syndrome, involving the complicated 3D patterns that the DNA is folded into in order to fit in the nucleus of the cell. Nearly all of the short tandem repeats known to grow unstable in disease are located at the boundaries that separate neighboring folded domains.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
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Source: Journal of Intellectual and Developmental Disability - Category: Disability Authors: Source Type: research
Publication date: Available online 15 September 2018Source: Advances in Biological RegulationAuthor(s): Hervé Moine, Nicolas VitaleAbstractFine-tuned regulation of new proteins synthesis is key to the fast adaptation of cells to their changing environment and their response to external cues. Protein synthesis regulation is particularly refined and important in the case of highly polarized cells like neurons where translation occurs in the subcellular dendritic compartment to produce long-lasting changes that enable the formation, strengthening and weakening of inter-neuronal connection, constituting synaptic plastic...
Source: Advances in Biological Regulation - Category: Biology Source Type: research
There is a need to examine health care utilization of individuals with the rare conditions muscular dystrophies, spina bifida, and fragile X syndrome. These individuals have a greater need for health care services, particularly inpatient admissions. Prior studies have not yet assessed 30-day all-cause readmission rates.
Source: Disability and Health Journal - Category: Disability Authors: Source Type: research
We present a 10-year-old patient with a pathogenic de novo heterozygous c.1231delC, p.Arg411Val frameshift variant in SHANK3. He presented with severe autism, attention deficit hyperactivity disorder and pathological demand avoidance, on a background of developmental impairment and language regression. The number of genes associated with autism is ever increasing. It is a heterogeneous group of disorders with no single gene conferring pathogenesis in the majority of cases. Genetic abnormalities can be detected in ~15% of ASD and these range from copy number variants in 16p11.2 and 15q13.2q13.3 to several well-known genetic...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Developmental Medicine&Child Neurology,Volume 60, Issue 10, Page 1060-1061, October 2018.
Source: Developmental Medicine and Child Neurology - Category: Child Development Authors: Source Type: research
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