Mayo Clinic Laboratory and Pathology Research Roundup: May 14

By Kelley Luedke • May 14, 2018

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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

Potential Genetic Modifiers of Disease Risk and Age at Onset in Patients with Frontotemporal Lobar Degeneration and GRN Mutations

Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. Mayo Clinic researchers aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers. The study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data. TMEM106B-related and GFRA2-related pathways might be future targets for treatments for FTLD, but the biological interaction between progranulin and these potential disease modifiers requires further study. TMEM106B and GFRA2 might also provide opportunities to select and stratify patients for future clinical trials and, when more is known about their potential effects, to inform genetic counselling, especially for asymptomatic individuals. The study was published in Lancet Neurology.

Published to PubMed This Week

• • • • • Accumulation of Gadolinium in Human Cerebrospinal Fluid after Gadobutrol-enhanced MR Imaging: A Prospective Observational Cohort Study
          Radiology
        • Colonic Adenomatous Polyps Involving Submucosal Lymphoglandular Complexes: A Diagnostic Pitfall
          American Journal of Surgical Pathology
        • Copy Number Variant Analysis using Genome-Wide Mate-Pair Sequencing
          Genes Chromosomes Cancer
        • Mutated Cancer Autoantigen Implicated Cause of Paraneoplastic Myasthenia Gravis
          Muscle Nerve
        • An Approach to Analytical Validation and Testing of Body Fluid Assays for the Automated Clinical Laboratory
          Clinical Biochemistry
        • Light Chain Cast Nephropathy: Practical Considerations in the Management of Myeloma Kidney-What We Know and What the Future May Hold
          Current Hematologic Malignancy Reports

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.