The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.
Thrombotic Microangiopathy Care Pathway: A Consensus Statement for the Mayo Clinic Complement Alternative Pathway-Thrombotic Microangiopathy (CAP-TMA) Disease-Oriented Group.
Thrombotic microangiopathies (TMAs) comprise a heterogeneous set of conditions linked by a common histopathologic finding of endothelial damage resulting in microvascular thromboses and potentially serious complications. The typical clinical presentation is microangiopathic hemolytic anemia accompanied by thrombocytopenia with varying degrees of organ ischemia. The differential diagnoses are generally broad, while the workup is frequently complex and can be confusing. This statement represents the joint recommendations from a multidisciplinary team of Mayo Clinic physicians specializing in the management of TMA. It comprises a series of evidence- and consensus-based clinical pathways developed to allow a uniform approach to the spectrum of care including when to suspect TMA, what differential diagnoses to consider, which diagnostic tests to order, and how to provide initial empiric therapy, as well as some guidance on subsequent management. The statement was published in Mayo Clinic Proceedings.
Spt4 Selectively Regulates the Expression of C9orf72 Sense and Antisense Mutant Transcripts
An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to target RNAs containing the expanded repeat sequence (GGGGCC); however, this approach is complicated by the presence of antisense strand transcription of expanded GGCCCC repeats. Mayo Clinic researchers found that targeting the transcription elongation factor Spt4 selectively decreased production of both sense and antisense expanded transcripts, as well as their translated dipeptide repeat (DPR) products, and also mitigated degeneration in animal models. Knockdown of SUPT4H1, the human Spt4 ortholog, similarly decreased production of sense and antisense RNA foci, as well as DPR proteins, in patient cells. Therapeutic targeting of a single factor to eliminate c9FTD/ALS pathological features offers advantages over approaches that require targeting sense and antisense repeats separately. The study was published in Science.
Published to PubMed This Week
- Screening Method for M-Proteins in Serum Using Nanobody Enrichment Coupled to MALDI-TOF Mass Spectrometry
- Identification and Validation of Multiple Cell Surface Markers of Clinical-Grade Adipose-Derived Mesenchymal Stromal Cells as Novel Release Criteria for Good Manufacturing Practice-Compliant Production
Stem Cell Research
- Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery
Journal of Biological Chemistry
- LRRK2 Variation and Dementia with Lewy Bodies
Parkinsonism & Related Disorders
- Ureaplasma Urealyticum Causes Hyperammonemia in an Experimental Immunocompromised Murine Model
- Management of Mycobacterium Chelonae Endophthalmitis With Complete Surgical Debridement
- Safety Studies in Tumor and Non-Tumor Bearing Mice in Support of Clinical Trials Using Oncolytic VSV-IFNβ-NIS
Human Gene Therapy Clinical Development
- Clinical-Pathologic Correlations in VGKC-Subtyped Autoimmune Painful Polyneuropathy
- Red Cell Exchange for a Case of Babesiosis
Journal of Clinical Apheresis
- The 2015 American-British-Canadian Traveling Fellows Report
Journal of Bone & Joint Surgery
- An Investigation of Cerebrovascular Lesions in Dementia with Lewy Bodies Compared to Alzheimer's Disease
Alzheimer's & Dementia
- Histologic Spectrum of Giant Cell Tumor (GCT) of Bone in Patients 18 Years of Age and Below: A Study of 63 Patients
American Journal of Surgical Pathology