Mayo Clinic Laboratory and Pathology Research Roundup: April 23

By Kelley Luedke • April 23, 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

Different Mutational Rates and Mechanisms in Human Cells at Pregastrulation and Neurogenesis

Somatic mosaicism in the human brain may alter function of individual neurons. Mayo Clinic researchers analyzed genomes of single cells from the forebrains of three human fetuses (15 to 21 weeks postconception) using clonal cell populations. They detected 200 to 400 single-nucleotide variations (SNVs) per cell. SNV patterns resembled those found in cancer cell genomes, indicating a role of background mutagenesis in cancer. SNVs with a frequency of >2% in brain were also present in the spleen, revealing a pregastrulation origin. Researchers reconstructed cell lineages for the first five postzygotic cleavages and calculated a mutation rate of ~1.3 mutations per division per cell. Later in development, during neurogenesis, the mutation spectrum shifted toward oxidative damage, and the mutation rate increased. Both neurogenesis and early embryogenesis exhibit substantially more mutagenesis than adulthood. The study was published in Science.

Published to PubMed This Week

• • • • • A Simplified Scoring System in de novo Follicular Lymphoma Treated Initially with Immunochemotherapy
          Blood
        • GIPSS: Genetically Inspired Prognostic Scoring System for Primary Myelofibrosis
          Leukemia
        • Donor-Specific Hypo-Responsiveness Occurs in Simultaneous Liver-Kidney Transplant Recipients After the First Year
          Kidney International
        • Glial Fibrillary Acid Protein: Functions and Involvement in Disease
          Neurology
        • Fifty-Year Incidence of Waldenström Macroglobulinemia in Olmsted County, Minnesota, From 1961 Through 2010: A Population-Based Study With Complete Case Capture and Hematopathologic Review
          Mayo Clinic Proceedings
        • Eight Years of Clinical Legionella PCR Testing Illustrate Seasonal Pattern
          Journal of Infectious Diseases
        • The Impact of Sex on Disease Phenotype and Prognostic Thresholds of Anemia in Myelodysplastic Syndromes
          American Journal of Hematology
        • Phase II Study of Everolimus in Metastatic Malignant Melanoma
          Oncologist
        • Anatomical Pathology is at a Crossroads
          Pathology
        • Does Matching for SNPs in the MHC Gamma Block in 10/10 HLA-Matched Unrelated Donor-Recipient Pairs Undergoing Allogeneic Stem Cell Transplant Improve Outcomes?
          Human Immunology
        • Alternative Reservoir and Balloon Placement in Complex Patients Undergoing Urologic Prostheses
          Current Urology

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.