A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure
Publication date: Available online 11 November 2016 Source:BBA Clinical Author(s): Jakub Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M. Kaminska, Cezary Zekanowski, Sławomir Filipek Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a pro...
Source: BBA Clinical - November 11, 2016 Category: Biochemistry Source Type: research
Microparticle subpopulations are potential markers of disease progression and vascular dysfunction across a spectrum of Connective Tissue Disease
Conclusion: MP populations differ across the spectrum of AIRDS, possibly reflecting differences in vascular cell injury and activation. MP levels are associated with functional assessments of vascular function and might have a role as novel vascular biomarkers in AIRDs. Significance and Innovations Levels of circulating endothelial and platelet microparticles differ between SSc/primary RP compared with SLE and other CTDs (UCTD, MCTD and Primary Sjogrens). MP release may occur within different vascular sites across these disease groups (macrovascular and microvascular). The association between circulating MP levels and obje...
Source: BBA Clinical - November 10, 2016 Category: Biochemistry Source Type: research
Ovarian-like differentiation in eutopic and ectopic endometrioses with aberrant FSH receptor, INSL3 and GATA4/6 expression
This study provides new tools that might improve the diagnosis of endometriosis in the future. (Source: BBA Clinical)
Source: BBA Clinical - November 5, 2016 Category: Biochemistry Source Type: research
Lymph node or perineural invasion is associated with low miR-15a, miR-34c and miR-199b levels in head and neck squamous cell carcinoma
Conclusions We showed that the levels of specific miRs in tumor tissue can provide insight into the maintenance and progression of HNSCC. General significance miRNAs are up- or down-regulated during cancer development and progression; they can be prognosis markers and therapeutic targets in HNSCC. Graphical abstract (Source: BBA Clinical)
Source: BBA Clinical - November 5, 2016 Category: Biochemistry Source Type: research
Attention deficit-hyperactivity disorder suffers from mitochondrial dysfunction
Conclusions Since cybrids are shown to replicate mitochondrial defects seen in post-mortem brains, these observed defects in ADHD cybrids strongly suggest mitochondrial pathology in this disorder. General significance Mitochondrial defects are detected in ADHD cybrids created from patients'platelets, implying bioenergetics crisis in the mitochondria could be a contributory factor for ADHD pathology and/or phenotypes. (Source: BBA Clinical)
Source: BBA Clinical - October 19, 2016 Category: Biochemistry Source Type: research
Metabolic response to Glatiramer acetate therapy in Multiple Sclerosis patients
Publication date: Available online 18 October 2016 Source:BBA Clinical Author(s): Lidia De Riccardis, Alessandra Ferramosca, Antonio Danieli, Giorgio Trianni, Vincenzo Zara, Francesca De Robertis, Michele Maffia Glatiramer acetate (GA; Copaxone) is a random copolymer of glutamic acid, lysine, alanine, and tyrosine used for the treatment of patients with multiple sclerosis (MS). Its mechanism of action has not been already fully elucidated, but it seems that GA has an immune-modulatory effect and neuro-protective properties. Lymphocyte mitochondrial dysfunction underlines the onset of several autoimmune disorders. ...
Source: BBA Clinical - October 19, 2016 Category: Biochemistry Source Type: research
Clinical significance of serum omentin-1 levels in patients with pancreatic adenocarcinoma
Conclusion Serum levels of omentin may have a good diagnostic role in patients with PA. (Source: BBA Clinical)
Source: BBA Clinical - October 15, 2016 Category: Biochemistry Source Type: research
Controversies and evidence of hepatic resection for hepatocellular carcinoma
Publication date: Available online 11 October 2016 Source:BBA Clinical Author(s): Jian-Hong Zhong, Guido Torzilli, Hao Xing, Chao Li, Jun Han, Lei Liang, Han Zhang, Shu-Yang Dai, Le-Qun Li, Feng Shen, Tian Yang Symptoms of early hepatocellular carcinoma (HCC) often go unnoticed, so more than half of patients with primary HCC are diagnosed after their disease has already reached an intermediate or advanced stage, or after portal hypertension has appeared. While hepatic resection is widely recognized as a first-line therapy to treat very early or early HCC, its use in treating intermediate or advanced HCC or HCC...
Source: BBA Clinical - October 12, 2016 Category: Biochemistry Source Type: research
Metabolic Relationship Between Diabetes and Alzheimer's Disease Affected by Cyclo(His-Pro) Plus Zinc Treatment
Publication date: Available online 2 October 2016 Source:BBA Clinical Author(s): Moon K. Song, David S. Bischoff, Albert M. Song, Koichi Uyemura, Dean T. Yamaguchi Background Association of Alzheimer's disease (AD) with Type 2 Diabetes (T2D) has been well established. Cyclo(His-Pro) plus zinc (Cyclo-Z) treatment ameliorated diabetes in rats and similar improvements have been seen in human patients. Treatment of amyloid precursor protein (APP) transgenic mice with Cyclo-Z exhibited memory improvements and significantly reduced Aβ-40 and Aβ-42 protein levels in the brain tissues of the mice. Scope of review Metabol...
Source: BBA Clinical - October 2, 2016 Category: Biochemistry Source Type: research
Shining light on the head: Photobiomodulation for brain disorders
Publication date: Available online 1 October 2016 Source:BBA Clinical Author(s): Michael R. Hamblin Photobiomodulation (PBM) describes the use of red or near-infrared light to stimulate, heal, regenerate, and protect tissue that has either been injured, is degenerating, or else is at risk of dying. One of the organ systems of the human body that is most necessary to life, and whose optimum functioning is most worried about by humankind in general, is the brain. The brain suffers from many different disorders that can be classified into three broad groupings: traumatic events (stroke, traumatic brain injury, and global i...
Source: BBA Clinical - October 1, 2016 Category: Biochemistry Source Type: research
ST-Elevation Myocardial Infarction Risk in the Very Elderly
Conclusions This is the first case–control study carried out with very elderlies to assess STEMI risk. Our findings indicate that reduced HDL-C, GFR, male gender, smoking habits and moderate to severe depressive symptoms are markers of STEMI in this age group. General Significance In Individuals aged 80 or more years, a greater attention must be paid to low HDL-C and GFR at the expense of conventional STEMI risk factors for younger adults such as diabetes mellitus, hypertension and high LDL-C or triglyceride. (Source: BBA Clinical)
Source: BBA Clinical - September 3, 2016 Category: Biochemistry Source Type: research
The broken “Off” switch in cancer signaling: PP2A as a regulator of tumorigenesis, drug resistance, and immune surveillance
Publication date: Available online 3 August 2016 Source:BBA Clinical Author(s): Peter P. Ruvolo Aberrant activation of signal transduction pathways can transform a normal cell to a malignant one and can impart survival properties that render cancer cells resistant to therapy. A diverse set of cascades have been implicated in various cancers including those mediated by serine/threonine kinases such RAS, PI3K/AKT, and PKC. Signal transduction is a dynamic process involving both “on” and “off” switches. Activating mutations of RAS or PI3K can be viewed as the switch being stuck in the “on” position resulting in...
Source: BBA Clinical - August 3, 2016 Category: Biochemistry Source Type: research
Treatment with recombinant human bone morphogenetic protein 7 leads to a transient induction of neutralizing autoantibodies in a subset of patients
Publication date: Available online 3 August 2016 Source:BBA Clinical Author(s): Andrea Schuette, Arash Moghaddam, Petra Seemann, Georg N. Duda, Gerhard Schmidmaier, Lutz Schomburg Background Recombinant human bone morphogenetic protein 7 (rhBMP7) is applied for treatment of bone fractures, especially tibial non-unions. Its application may induce autoantibodies (aAB) affecting the targeted and endogenous signaling pathways and in turn negatively impact treatment efficacy. Methods Novel and sensitive assays for the quantification of BMP7-aAB and BMP2-aAB were established and used to analyze serum samples from health...
Source: BBA Clinical - August 3, 2016 Category: Biochemistry Source Type: research
Phosphorylation of GSK3 α/β correlates with activation of AKT and is prognostic for poor overall survival in acute myeloid leukemia patients
Conclusions These findings suggest that AKT-mediated phosphorylation of GSK3α/β may be beneficial to AML cell survival, and hence detrimental to the overall survival of AML patients. Intrinsically, p-GSK3α/β may serve as an important adverse prognostic factor for a subset of AML patients. (Source: BBA Clinical)
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
Treatment of non-muscle invasive bladder cancer with Bacillus Calmette –Guerin (BCG): Biological markers and simulation studies
Publication date: December 2015 Source:BBA Clinical, Volume 4 Author(s): Alex Kiselyov, Svetlana Bunimovich-Mendrazitsky, Vladimir Startsev Intravesical Bacillus Calmette–Guerin (BCG) vaccine is the preferred first line treatment for non-muscle invasive bladder carcinoma (NMIBC) in order to prevent recurrence and progression of cancer. There is ongoing need for the rational selection of i) BCG dose, ii) frequency of BCG administration along with iii) synergistic adjuvant therapy and iv) a reliable set of biochemical markers relevant to tumor response. In this review we evaluate cellular and molecular markers pe...
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
