Spectral Analysis of Codons in the DNA Sequence of Fragile X Syndrome

AbstractThere are frequent studies undergoing related to the Fragile X syndrome caused due to the triplet CGG replicates on the X chromosome of Fragile X Mental Retardation 1 (FMR1) gene. Mutations of this chromosome can lead to Fragile X syndrome, rational disability, and other cognitive discrepancies. A novel approach based on Rajan Transform is proposed to analyze the spectral density of codons. The traditional transform like Fourier transform provides imaginary values whereas the Rajan Transform exhibits only the real values. The mutations there in the DNA are successfully distinguished by using the Rajan Transform which is suitable tool for the spectral analysis of DNA sequences. The utilization of the Rajan Transform urges larger profits in terms of minimal false alarm rate and thereby leading to an increase in the accuracy of the spectral analysis.
Source: Journal of Medical Systems - Category: Information Technology Source Type: research

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ConclusionBased on the diagnostic rate observed in this cohort, we suggest that a stepwise procedure be considered, first screening pathogenic CNVs and a limited number of disease genes in a much larger number of patients, especially those with syndromic ASD and intellectual disability.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Abstract Fragile X syndrome (FXS) is a leading cause of heritable intellectual disability and autism. Humans with FXS show anxiety, sensory hypersensitivity and impaired learning. The mechanisms of learning impairments can be studied in the mouse model of FXS, the Fmr1 KO mouse, using tone-associated fear memory paradigms. Our previous study reported impaired development of parvalbumin (PV) positive interneurons and perineuronal nets (PNN) in the auditory cortex of Fmr1 KO mice. A recent study suggested PNN dynamics in the auditory cortex following tone-shock association is necessary for fear expression. Together ...
Source: Neurobiology of Learning and Memory - Category: Neurology Authors: Tags: Neurobiol Learn Mem Source Type: research
Abstract Fragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. The Fmr1 knockout (KO) mouse is a commonly studied pre-clinical model of FXS. Adult male Fmr1 KO mice produce fewer ultrasonic vocalizations (USVs) during mating, suggestive of abnormal social communication. Minocycline treatment for 2 months from birth alleviates a number of FXS phenotypes in mice, including USV call rate deficits. In the current study, we investigated if treatment initiated past the early developmental period would be effective, given that in many cases, individuals with FXS are treated during l...
Source: Behavioural Brain Research - Category: Neurology Authors: Tags: Behav Brain Res Source Type: research
Publication date: Available online 28 June 2019Source: Stem Cell ResearchAuthor(s): Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. MuddashettyAbstractMutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play important role in synaptic plasticity and translational regulation in neurons. We have generated a homozygous FMR1 knockout (FMR1-KO) hESC line using CRISPR/Cas9 based genome editing. It created a homozygous 280 nucleotid...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Abstract Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studi...
Source: Clinical Linguistics and Phonetics - Category: Speech-Language Pathology Authors: Tags: Clin Linguist Phon Source Type: research
Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. FXS is caused by loss of expression of fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates translation of numerous mRNA targets, some of which are present at synapses. While protein synthesis deficits have...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Authors: Dean DD, Agarwal S, Muthuswamy S Abstract Background: Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM),>200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene. Early identification of FXS has prognostic significance for affected individuals due to early initiation of interventions. Genetic counseling and family screening can aid parents and at-risk asymptomatic carriers (premutation (PM), 55-200 CGG) in taking proper reproductive decisions. Methodology: The present study utilizes Triplet Primed-Polymera...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
r C Abstract Identifying the early signs of developmental disability is important for ensuring timely diagnosis and early intervention. Day-care workers may be in a prime position to notice potential developmental deviations, but it is unclear if they can accurately recognize subtle early signs of atypical development. Sixty day-care workers examined home-videos of very young children with fragile X syndrome and typically developing children. Results indicated that most day-care workers can distinguish typical and atypical development in general and might therefore have an important role in early identification. S...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Fragile X Syndrome (FXS) is one of the most common monogenic forms of autism and intellectual disability. Preclinical studies in animal models have highlighted the potential of pharmaceutical intervention strategies for alleviating the symptoms of FXS. However, whether treatment strategies can be tailored to developmental time windows that define the emergence of particular phenotypes is unknown. Similarly, whether a brief, early intervention can have long-lasting beneficial effects, even after treatment cessation, is also unknown. To address these questions, we first examined the developmental profile for the acquisition ...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
King of the Spanish Habsburg dynasty and sovereign of the overseas Spanish Empire, Charles II of Spain, was physically disabled, disfigured, mentally retarded, and he proved impotent. He is known in history asEl Hechizado (the Bewitched) because both him and the people believed that his mental and physical incapacity were due to a “witchcraft act.” Although several authors speculated about different diseases, most of them genetic such as pituitary hormone deficiency, distal renal tubular acidosis, Klinefelter syndrome, fragile X syndrome, or male XX hermaphroditism, the hypothesis of hydrocephalus was not taken...
Source: European Neurology - Category: Neurology Source Type: research
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