Analysing the role of candidate neurological disease genes at synapses in Drosophila

2021 ◽  
Author(s):  
◽  
Sarah Kerwin
Keyword(s):  
Neurological Disease ◽  
Disease Genes

POPDC proteins and cardiac function

2019 ◽  
Vol 47 (5) ◽  
pp. 1393-1404 ◽  
Author(s):  
Thomas Brand
Keyword(s):  
Potential Role ◽  
Striated Muscle ◽  
Short Review ◽  
Effector Proteins ◽  
Muscle Disease ◽  
Disease Genes ◽  
Protein Protein Interaction ◽  
Interaction Partners ◽  
And Function

Abstract The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein–protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.

scholarly journals Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1237
Author(s):  
Anna Morgan ◽  
Stefania Lenarduzzi ◽  
Beatrice Spedicati ◽  
Elisabetta Cattaruzzi ◽  
Flora Maria Murru ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Disease Genes ◽  
Italian Population ◽  
Essential Information ◽  
Whole Exome ◽  
Relevant Role ◽  
Multiplex Ligation Probe Amplification ◽  
Syndromic Hearing Loss

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients’ future management.

The role of manganese dysregulation in neurological disease: emerging evidence

2021 ◽  
Vol 20 (11) ◽  
pp. 956-968
Author(s):  
Dimitri Budinger ◽  
Serena Barral ◽  
Audrey K S Soo ◽  
Manju A Kurian
Keyword(s):  
Neurological Disease

scholarly journals Experimental infection of rabbits with a recombinant bovine herpesvirus type 5 (BoHV-5) gI, gE and US9-negative

2009 ◽  
Vol 29 (11) ◽  
pp. 913-918 ◽  
Author(s):  
Alessandra D'Avila Silva ◽  
Ana Cláudia Franco ◽  
Paulo Augusto Esteves ◽  
Fernando Rosado Spilki ◽  
Paulo Michel Roehe
Keyword(s):  
Neurological Disease ◽  
Age Groups ◽  
Clinical Signs ◽  
Bovine Herpesvirus ◽  
Wild Type ◽  
Herpesvirus Type ◽  
Viral Genes ◽  
Bovine Herpesvirus Type 5 ◽  
Two Age Groups

Bovine herpesvirus type 5 (BoHV-5) is a major cause of viral meningoencephalitis in cattle. The expression of different viral proteins has been associated with BoHV-5 neuropathogenesis. Among these, gI, gE and US9 have been considered essential for the production of neurological disease in infected animals. To evaluate the role of gI, gE and US9 in neurovirulence, a recombinant from which the respective genes were deleted (BoHV-5 gI-/gE-/US9-) was constructed and inoculated in rabbits of two age groups (four and eight weeks-old). When the recombinant virus was inoculated through the paranasal sinuses of four weeks-old rabbits, neurological disease was observed and death was the outcome in 4 out of 13 (30.7 %) animals, whereas clinical signs and death were observed in 11/13 (84.6%) of rabbits infected with the parental virus. In eight weeks-old rabbits, the BoHV-5 gI-/gE-/US9- did not induce clinically apparent disease and could not be reactivated after dexamethasone administration, whereas wild type BoHV-5 caused disease in 55.5% of the animals and was reactivated. These findings reveal that the simultaneous deletion of gI, gE and US9 genes did reduce but did not completely abolish the neurovirulence of BoHV-5 in rabbits, indicating that other viral genes may also play a role in the induction of neurological disease.

scholarly journals DEFINING CANDIDATE PARKINSON’S DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

2020 ◽  
Author(s):  
Steven J Lubbe ◽  
Yvette C. Wong ◽  
Bernabe Bustos ◽  
Soojin Kim ◽  
Jana Vandrovcova ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Autosomal Recessive Inheritance ◽  
Homozygosity Mapping ◽  
Disease Genes ◽  
Compound Heterozygous ◽  
Genome Wide ◽  
Biallelic Mutations ◽  
Functional Analyses

ABSTRACTEarly-onset Parkinson’s disease (EOPD) can be caused by biallelic mutations in PRKN, DJ1 and PINK1. However, while the identification of novel genes is becoming increasingly challenging, new insights into EOPD genetics have important relevance for understanding the pathways driving disease pathogenesis. Here, using extended runs of homozygosity (ROH) >8Mb as a marker for possible autosomal recessive inheritance, we identified 90 EOPD patients with extended ROH. Investigating rare, damaging homozygous variants to identify candidate genes for EOPD, 81 genes were prioritised. Through the assessment of biallelic (homozygous and compound heterozygous) variant frequencies in cases and controls from three independent cohorts totalling 3,381 PD patients and 2,463 controls, we identified two biallelic MIEF1 variant carriers among EOPD patients. We further investigated the role of disease-associated variants in MIEF1 which encodes for MID51, an outer mitochondrial membrane protein, and found that putative EOPD-associated variants in MID51 preferentially disrupted its oligomerization state. These findings provide further support for the role of mitochondrial dysfunction in the development of PD. Together, we have used genome-wide homozygosity mapping to identify potential EOPD genes, and future studies incorporating expanded datasets and further functional analyses will help to determine their roles in disease aetiology.

scholarly journals Paramyxoviruses and Multiple Sclerosis

2012 ◽  
Vol 9 (3) ◽  
pp. 500-503
Author(s):  
Baghdad Science Journal
Keyword(s):  
Multiple Sclerosis ◽  
Autoimmune Disease ◽  
Environmental Factors ◽  
Neurological Disease ◽  
Epidemiological Data ◽  
Igg Antibodies ◽  
Significant Difference ◽  
Elisa Technique

Multiple Sclerosis (MS) is a progressive neurological disease characterized by periods of quiescence and exacerbation, epidemiological data suggest the notion that MS is an acquired autoimmune disease caused by environmental factors, probably infectious, in genetically susceptible individuals.The submitted research was attempted to study the possible viral (Paramyxoviruses) role in MS, the sera of 57 MS patients were assayed for anti-measles and anti-mumps IgG antibodies using ELISA technique, the results were compared in order to establish the presence or absence of a significant difference regarding both number of positive cases and antibodies titer between the two groups, the results revealed that there is no in number of measles positive cases in both MS patients and controls while a significant difference in number of positive cases of mumps and measles anti-measles IgG titer and a highly significant difference regarding mumps IgG Abs titer between the two studied groups, this may be considered as a preliminary indicator to the role of those two paramyxoviruses in MS.

scholarly journals CLEC3B p.S106G Mutant in a Caucasian Population of Successful Neurological Aging

2019 ◽  
Vol 75 (9) ◽  
pp. 1618-1623 ◽  
Author(s):  
Ana Kolicheski ◽  
Ronald L Walton ◽  
Alexandra I Soto-Beasley ◽  
Michael G Heckman ◽  
Ryan J Uitti ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Neurodegenerative Disease ◽  
Neurological Disease ◽  
Successful Aging ◽  
Snp Array ◽  
Missense Variant ◽  
Caucasian Population ◽  
Healthy Individuals ◽  
Specific Subset

Abstract A number of efforts are underway to better understand the role of genetic variation in successful aging and longevity. However, to date, only two genes have been consistently associated with longevity in humans: APOE and FOXO3, with the APOE ɛ2 allele also protective against dementia. Recently, using an exome-wide SNP array approach, a missense variant CLEC3B c.316G>A (rs13963 p.S106G) was reported to associate with longevity in two independent cohorts of Japanese and Chinese participants. Interestingly, CLEC3B p.S106G is more frequent in Caucasian populations. Herein, we examined the frequency of CLEC3B p.S106G in a Caucasian series of 1,483 neurologically healthy individuals with a specific subset >80 years of age. Although our findings do not support an association between CLEC3B p.S106G and aging without neurological disease (p = .89), we confirmed the association between the APOE ε2 allele and better survival without neurological disease (p = .001). Further assessment of healthy aged cohorts that retain intact neurological function will be critical to understand the etiology of neurodegenerative disease and the role of age at risk.

The role of metabolomics in neurological disease

2012 ◽  
Vol 248 (1-2) ◽  
pp. 48-52 ◽  
Author(s):  
Ghaniah Hassan-Smith ◽  
Graham R. Wallace ◽  
Michael R. Douglas ◽  
Alexandra J. Sinclair
Keyword(s):  
Neurological Disease
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