Pathogenicity in POLG Syndromes: DNA Polymerase Gamma Pathogenicity Prediction Server and Database
Publication date: Available online 18 April 2017 Source:BBA Clinical Author(s): Anssi Nurminen, Gregory A. Farnum, Laurie S. Kaguni DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neuropathy spectrum (ANS) and progressive external ophthalmoplegia (PEO). We have collected all publ...
Source: BBA Clinical - April 18, 2017 Category: Biochemistry Source Type: research
Cumulus cell mitochondrial activity in relation to body mass index in women undergoing assisted reproductive therapy
Publication date: Available online 5 April 2017 Source:BBA Clinical Author(s): Victoria K. Gorshinova, Daria V. Tsvirkun, Iuliia A. Sukhanova, Nadezhda V. Tarasova, Maria A. Volodina, Maria V. Marey, Veronika U. Smolnikova, Mikhail Yu. Vysokikh, Gennady T. Sukhikh Most studies have considered the negative influence of obesity on fertility in both genders. In the present study, we assessed mitochondrial activity expressed as the mitochondrial potential index (MPI) in cumulus cells from obese women and women with a normal body mass index (BMI) during assisted reproductive therapy. The results revealed a significan...
Source: BBA Clinical - April 11, 2017 Category: Biochemistry Source Type: research
Detection of copy number alterations in cell-free tumor DNA from plasma
Conclusions Genomic alterations detected in ccfDNA from liquid biopsies by comprehensive SNP array are reliable source for information for stratification of patients for targeted treatment. General Significance Clinically relevant SCNAs can be detected in ccfDNA with high resolution and can therefore serve as an alternative to tumor biopsy in defining treatment targets. (Source: BBA Clinical)
Source: BBA Clinical - April 4, 2017 Category: Biochemistry Source Type: research
Applying a systems approach to thyroid physiology: looking at the whole with a mitochondrial perspective instead of judging single TSH values or why we should know more about mitochondria to understand metabolism
Publication date: Available online 4 April 2017 Source:BBA Clinical Author(s): Roy Moncayo, Helga Moncayo Classical thinking in endocrine physiology squeezes our diagnostic handling into a simple negative feedback mechanism with a controller and a controlled variable. In the case of the thyroid this is reduced to TSH and fT3 and fT4, respectively. The setting of this tight notion has no free space for any additions. In this paper we want to challenge this model of limited application by proposing a construct based on a systems approach departing from two basic considerations. In first place since the majority of cases ...
Source: BBA Clinical - April 4, 2017 Category: Biochemistry Source Type: research
A post-publication analysis of the idealized upper reference value of 2.5mIU/L for TSH: Time to support the thyroid axis with magnesium and iron especially in the setting of reproduction medicine
Publication date: Available online 19 March 2017 Source:BBA Clinical Author(s): Roy Moncayo, Helga Moncayo Laboratory medicine approaches the evaluation of thyroid function mostly through the single determination of the blood level of thyroid stimulating hormone (TSH). Some authors have suggested an upper reference value for TSH of 2.5mIU/L. This suggestion has not been confirmed by recent clinical studies. These studies have delivered a clinically valid reference range going from 0.3 to 3.5mIU/L. These values are valid for both for the general population as well as in the setting of fertility and pregnancy. Current bi...
Source: BBA Clinical - March 19, 2017 Category: Biochemistry Source Type: research
Proteomic analysis of bronchoalveolar lavage fluid (BALF) from lung cancer patients using label-free mass spectrometry
Conclusion The results presented in this study indicate that BALF is an important proximal biofluid for the discovery and identification of candidate lung cancer biomarkers. General significance There is good correlation between the trend of protein abundance levels in BALF and that of plasma which validates this approach to develop a blood biomarker to aid lung cancer diagnosis, particularly in the era of lung cancer screening. The protein signatures identified also provide insight into the molecular mechanisms associated with lung malignancy. (Source: BBA Clinical)
Source: BBA Clinical - March 19, 2017 Category: Biochemistry Source Type: research
The plasma lipidome in acute myeloid leukemia at diagnosis in relation to clinical disease features
Conclusions These data indicate potential roles played by lipids in AML heterogeneity and disease outcome. General Significance Enhanced catabolism of several lipid classes increases prognostic risk while plasma PGF2α may be a marker for reduced prognostic risk in AML. Graphical abstract (Source: BBA Clinical)
Source: BBA Clinical - March 8, 2017 Category: Biochemistry Source Type: research
Proteomics analysis of bronchoalveolar lavage fluid (BALF) from lung cancer patients using label-free mass spectrometry
Conclusion The results presented in this study indicate that BALF is an important proximal biofluid for the discovery and identification of candidate lung cancer biomarkers. General Significance There is good correlation between the trend of protein abundance levels in BALF and that of plasma which validates this approach to develop a blood biomarker to aid lung cancer diagnosis, particularly in the era of lung cancer screening. The protein signatures identified also provides insight into the molecular mechanisms associated with lung malignancy. (Source: BBA Clinical)
Source: BBA Clinical - March 6, 2017 Category: Biochemistry Source Type: research
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice
Publication date: Available online 13 February 2017 Source:BBA Clinical Author(s): Xingxuan He, Shaalee Dworski, Changzhi Zhu, Victor DeAngelis, Alex Solyom, Jeffrey A. Medin, Calogera M. Simonaro, Edward H. Schuchman A series of studies were carried out in Farber disease (OMIM #228000) cells and mice to evaluate the feasibility of enzyme replacement therapy (ERT) for this disorder. Media from Chinese hamster ovary (CHO) cells overexpressing human recombinant acid ceramidase (rhAC) was used to treat fibroblasts from a Farber disease patient, leading to significantly reduced ceramide. We also found that chondrocyt...
Source: BBA Clinical - February 12, 2017 Category: Biochemistry Source Type: research
Regulation of cardiac CACNB2 by microRNA-499: Potential role in atrial fibrillation
In conclusion, upregulation of atrial miR-499 induces the downregulation of CACNB2 expression and may contribute to the electrical remodeling in AF. (Source: BBA Clinical)
Source: BBA Clinical - February 8, 2017 Category: Biochemistry Source Type: research
Understanding Breast Cancer – The long and winding road
Publication date: Available online 27 January 2017 Source:BBA Clinical Author(s): Kiven Erique Lukong Background Despite a remarkable increase in the depth of our understanding and management of breast cancer in the past 50years, the disease is still a major public health problem worldwide and poses significant challenges. The palpability of breast tumors has facilitated diagnosis and documentation since ancient times. The earliest descriptions of breast cancer date back to around 3500BC. For centuries to follow, theories by Hippocrates (460BC) and Galen (AD 200) attributing the cause of breast cancer to an “excess of...
Source: BBA Clinical - January 27, 2017 Category: Biochemistry Source Type: research
Plasma protein-bound di-tyrosines as biomarkers of oxidative stress in end stage renal disease patients on maintenance haemodialysis
Conclusions This study demonstrates that a single HD session does not increase, rather partially decreases, oxidative pathways producing di-Tyr in the haemodialyzed patient. General significance The choice of the most pertinent biomarkers of oxidative stress is critical for the development of novel treatments for ESRD. However, the relative importance of oxidative stress and inflammation in ESRD remains largely undetermined, and several questions concerning oxidative stress and inflammation remain poorly defined. These results could stimulate further studies on the use of plasma protein-bound di-Tyr as a longlasting oxida...
Source: BBA Clinical - January 4, 2017 Category: Biochemistry Source Type: research
Lysozyme association with circulating RNA, extracellular vesicles, and chronic stress
Conclusions Repair and inflammatory signals are identified in plasma EVs and circulating RNAs in chronic stress. Registered clinicaltrials.gov #NCT00824941 General Significance This study highlights the role of circulating RNAs and EVs in stress. (Source: BBA Clinical)
Source: BBA Clinical - December 20, 2016 Category: Biochemistry Source Type: research
Hemophagocytic lymphohistiocytosis in adults: an under recognized entity
We report a case of malignancy associated HLH (M-HLH) in adult treated on one of the only FDA-approved protocols for adult HLH to highlight the diagnostic and therapeutic challenges of this disease entity. (Source: BBA Clinical)
Source: BBA Clinical - December 20, 2016 Category: Biochemistry Source Type: research
Metabolomic analysis identifies differentially produced oral metabolites, including the oncometabolite 2-hydroxyglutarate, in patients with head and neck squamous cell carcinoma
Conclusions Oral metabolites related to energy metabolism were elevated in HNSCC, and acylcarnitine and 2HG may have potential as non-invasive biomarkers. Further validation in clinical studies is warranted. (Source: BBA Clinical)
Source: BBA Clinical - December 18, 2016 Category: Biochemistry Source Type: research
