Log in to search using one of your social media accounts:

 

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2017 Jul 10;: Authors: Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang A, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V Abstract Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males, 113 females) from 36 families carrying 15 different VCP mutations. We analyzed correlation between the different mutations and prevalence, age of onset and severity of myopathy, PDB, and FTD, and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients respectively, beginning at an average age of 43 years, 41 years, and 56 years respectively. Approximately 9% of patients with VCP mutations had an ALS phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large inter and intra-familial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C muta...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research

Related Links:

In conclusion, the connection between DNA damage and aging is emphasized by the secretion of senescence-associated proteins during cellular senescence, a phenotype which is activated by DNA damage and is common for both human and mice. Though much progress has been achieved, full understanding of these mechanisms has still a long way to go. XPO1 as a Novel Target for Therapies to Enhance Autophagy https://www.fightaging.org/archives/2018/05/xpo1-as-a-novel-target-for-therapies-to-enhance-autophagy/ Autophagy is the name given to a collection of cellular housekeeping processes that recycle damaged and un...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusions: In this review we will provide animal and human research data on the current clinical neurological uses for CBD individually and in combination with Δ9-THC. We will emphasize the neuroprotective, antiinflammatory, and immunomodulatory benefits of phytocannabinoids and their applications in various clinical syndromes. PMID: 29770251 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
Xueqin Ma Echinacoside (ECH), a natural phenylethanoid glycoside, was first isolated from Echinacea angustifolia DC. (Compositae) sixty years ago. It was found to possess numerous pharmacologically beneficial activities for human health, especially the neuroprotective and cardiovascular effects. Although ECH showed promising potential for treatment of Parkinson’s and Alzheimer’s diseases, some important issues arose. These included the identification of active metabolites as having poor bioavailability in prototype form, the definite molecular signal pathways or targets of ECH with the above effects...
Source: Molecules - Category: Chemistry Authors: Tags: Review Source Type: research
Since mitochondria seem to be the dominant theme this week, today I thought I'd point out a couple of recent open access papers that focus on the role of mitochondrial function (and dysfunction) in the neurodegeneration that accompanies aging. Every cell bears a swarm of mitochondria, the descendants of ancient symbiotic bacteria. Even though mitochondria long ago evolved into integrated cellular components, they still behave very much like bacteria in many ways. They multiply through division, and can fuse together and swap component parts, pieces of the molecular machinery necessary to their function. They also contain t...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Conclusion: The complex molecular underpinnings of these disorders are currently elusive. Despite heterogeneous clinical and pathological expressions, common features have been recognized in many NDs which provide evidence of their convergence. PMID: 29755292 [PubMed]
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research
Authors: Reitz C Abstract In recent years, genomic, animal and cell biology studies have implicated deficiencies in retromer-mediated trafficking of proteins in an increasing number of neurodegenerative diseases including Alzheimer's Disease (AD), Parkinson's Disease (PD) and Frontotemporal Lobar Degener-ation (FTLD). The retromer complex, which is highly conserved across all eukaryotes, regulates the sorting of transmembrane proteins out of endo-somes to the cell surface or to the trans-Golgi network. Within retromer, cargo selection and binding are performed by a trimer of the Vps26, Vps29 and Vps35 proteins, nam...
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research
(University of California - San Diego) A UC San Diego-led team has identified a gene that helps prevent the harmful buildup of proteins that can lead to neurological disorders such as Alzheimer's and Parkinson's disease. As published in Nature, the researchers found that the 'Ankrd16' gene acts like a failsafe in proofreading and correcting errors to avoid the abnormal production of improper proteins.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Multivariate meta-analyses of mitochondrial complex I and IV in major depressive disorder, bipolar disorder, schizophrenia, Alzheimer disease, and Parkinson disease, Published online: 16 May 2018; doi:10.1038/s41386-018-0090-0Multivariate meta-analyses of mitochondrial complex I and IV in major depressive disorder, bipolar disorder, schizophrenia, Alzheimer disease, and Parkinson disease
Source: Neuropsychopharmacology - Category: Neurology Authors: Source Type: research
Authors: Liu X, Jiao B, Zhang W, Xiao T, Hou L, Pan C, Tang B, Shen L Abstract Recently, the coiled‑coil‑helix‑coiled‑coil‑helix domain 2 (CHCHD2) gene was identified as a possible causative gene for Parkinson's disease (PD). Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases. The present study screened all exons of the CHCHD2 gene...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
In this study, we performed behavioral and proteomics analysis of crmp2 ki/ki mice. The crmp2 ki/ki mice appeared healthy and showed no obvious differences in physical characteristics compared to wild-type mice, but they showed impaired emotional behavior, reduced sociality, and low sensitivity to pain stimulation. Through mass-spectrometry-based proteomic analysis, we found that 59 proteins were increased and 77 proteins were decreased in the prefrontal cortex of crmp2 ki/ki mice. Notably, CRMP3, CRMP4, and CRMP5, the other CRMP family proteins, were increased in crmp2 ki/ki mice. KEGG (Kyoto Encyclopedia of Genes and Gen...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
More News: Alzheimer's | Genetics | Parkinson's Disease | Study