Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10636 (tau protein)
 5,110 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

With increased frequency, clinical geneticists are asked for genetic advice on the heredity of dementia in families. Alzheimer's disease is in most cases a complex disease, but may be autosomal dominant inherited. Mutations in the PSEN1 gene are the most common genetic cause of early onset Alzheimer's disease, whereas APP and PSEN2 gene mutations are less frequent. Familial frontotemporal dementia may be associated with a mutation in the MAPT or GRN gene, or with a repeat expansion in the C9orf72 gene. All these genes show autosomal dominant inheritance with a high penetrance. Although Alzheimer's disease and frontotemporal dementia are clinically distinguishable entities, phenotypical overlap may occur. Rarely, dementia is caused by mutations in other autosomal dominant genes or by genetic defects with autosomal recessive, X-linked dominant or mitochondrial inheritance. The inherited forms of frontotemporal dementia and Alzheimer's disease show a large phenotypic variability also within families, resulting in many remaining uncertainties for mutation carriers. Therefore, genetic counseling before performing genetic testing is essential in both symptomatic individuals and healthy at risk relatives. This review provides an overview of the genetic causes of dementia and discusses all aspects relevant for genetic counseling and testing. Furthermore, based on current knowledge, we provide algorithms for genetic testing in patients with early onset Alzheimer's disease or frontotemporal dementia.
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PMID:Genetics of dementia: update and guidelines for the clinician. 2281 25

Accumulation of aberrant proteins in inclusion bodies is a hallmark of many neurodegenerative diseases. Impairment of proteolytic systems is a common event in these protein misfolding diseases. Recently, mutations in the UBQLN 2 gene encoding ubiquilin 2 have been identified in X-linked amyotrophic lateral sclerosis (ALS). Furthermore, ubiquilin 2 is associated with inclusions in familial and sporadic ALS/dementia, synucleinopathies and polyglutamine diseases. Ubiquilin 2 exerts a regulatory role in proteostasis and thus it has been suggested that ubiquilin 2 pathology may be a common event in neurodegenerative diseases. Tauopathies, a heterogenous group of neurodegenerative diseases accompanied with dementia, are characterized by inclusions of the microtubule-binding protein tau. In the present study, we investigate whether ubiquilin 2 is connected with tau pathology in Alzheimer's disease (AD), supranuclear palsy (PSP) and Pick's disease (PiD) and familial cases with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We show that ubiquilin 2 positive inclusions are absent in these tauopathies. Furthermore, we find decreased ubiquilin 2 protein levels in AD patients, but our results do not indicate a correlation with tau pathology. Our data show no evidence for involvement of ubiquilin 2 and indicate that other mechanisms underly the proteostatic disturbances in tauopathies.
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PMID:Ubiquilin 2 is not associated with tau pathology. 2408 54

Duchenne muscular dystrophy (DMD), which is caused by mutations in the X-linked dystrophin gene, is a severe and progressive neuromuscular disease with no available cure. By integrating 2 microarray datasets from the Gene Expression Omnibus, we identified differentially expressed genes in 2 stages of DMD and systematically explored their potential disease-related mechanisms using a network view. Twenty differentially expressed genes were detected in various stages of DMD. According to the network with dystrophin as its center, none of the 20 proteins interacts with dystrophin directly. IQ motif-containing GTPase-activating protein 1 was found in the 2nd-level neighbors with a degree of 21. Microtubule-associated protein tau, membrane metallo-endopeptidase, interleukin 13 receptor alpha 1, and multiple epidermal growth factor-like domains 6 were found in the 3rd-level neighbors. These identifications require further investigation, as this report is the first of possible associations between DMD and these proteins. Analysis of differentially expressed genes through this network view may provide important information for further exploration of underlying mechanisms of DMD.
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PMID:Analysis of differentially expressed genes in various stages of Duchenne muscular dystrophy by using a network view. 2422 27