Mayo Clinic Laboratory and Pathology Research Roundup: Oct. 23

By Kelley Luedke • October 23, 2017

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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.

Featured Abstract

Human DBR1 Modulates the Recycling of snRNPs to Affect Alternative RNA Splicing and Contributes to the Suppression of Cancer Development

The contribution of RNA processing to tumorigenesis is understudied. Mayo Clinic Researchers reported that the human RNA debranching enzyme (hDBR1), when inappropriately regulated, induces oncogenesis by causing RNA processing defects, for example, splicing defects. Researchers found that wild-type p53 and hypoxia-inducible factor 1 co-regulate hDBR1 expression, and insufficient hDBR1 leads to a higher rate of exon skipping. Transcriptomic sequencing confirmed the effect of hDBR1 on RNA splicing, and metabolite profiling supported the observation that neoplasm is triggered by a decrease in hDBR1 expression both in vitro and in vivo. Most importantly, when modulating the expression of hDBR1, which was found to be generally low in malignant human tissues, higher expression of hDBR1 only affected exon-skipping activity in malignant cells. Together, the findings demonstrate previously unrecognized regulation and functions of hDBR1, with immediate clinical implications regarding the regulation of hDBR1 as an effective strategy for combating human cancer. The review was published in Oncogene.

Published to PubMed This Week

• Comparative Study of Bicuspid vs. Tricuspid Aortic Valve Stenosis
  European Heart Journal - Cardiovascular Imaging
• Disseminated Histoplasmosis: an Unusual Presentation of a Classic Midwest Infection
  American Journal of Medicine
• Survival in Response to Multimodal Therapy in Anaplastic Thyroid Cancer
  Journal of Clinical Endocrinology & Metabolism
• Revisiting the Need for Bone Marrow Examination in Chronic Myeloid Leukemia
  American Journal of Hematology
• Safety of Magnetic Resonance Imaging in Patients with Legacy Pacemakers and Defibrillators and Abandoned Leads
  Heart Rhythm
• Prophylactic Cranial Irradiation Following Surgical Resection of Early-Stage Small-Cell Lung Cancer: A Review of the Literature
  Frontiers in Oncology
• NCCTG N0879 (Alliance): A Randomized Phase 2 Cooperative Group Trial of Carboplatin, Paclitaxel, and Bevacizumab ± Everolimus for Metastatic Melanoma
  Cancer
• Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
  JIMD Reports
• Kidney Transplant With Low Levels of DSA or Low Positive B-Flow Crossmatch: An Underappreciated Option for Highly Sensitized Transplant Candidates
  Transplantation
• Genetically Defined Oligodendroglioma Is Characterized by Indistinct Tumor Borders at MRI
  American Journal of Neuroradiology
• Crohn's Disease of the Pouch: A True Diagnosis or an Oversubscribed Diagnosis of Exclusion?
  Diseases of the Colon & Rectum
• 2016 Updates to the WHO Brain Tumor Classification System: What the Radiologist Needs to Know
  Radiographics
• Mesenchymal Stromal Cells Protect Human Cardiomyocytes From Amyloid Fibril Damage
  Cytotherapy
• Breast Implant Capsule-Associated Squamous Cell Carcinoma: A Report of 2 Cases
  Human Pathology
• Molecular Subtyping of Tumors from Patients with Familial Glioma
  Neuro-Oncology
• Low-Dose CT for the Detection and Classification of Metastatic Liver Lesions: Results of the 2016 Low Dose CT Grand Challenge
  Medical Physics
• Neoplastic Pericardial Disease
  Cardiology Clinics
• Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome
  ACG Case Reports Journal

Kelley Luedke

Kelley Luedke is a Marketing Channel Manager at Mayo Clinic Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her kitty, and exploring new foods.