Mayo Clinic Laboratory and Pathology Research Roundup: March 7

The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including a featured article of the week, abstracts, and complete list of published studies and reviews.

Featured Study of the Week

Assessing the Usefulness of Activity Indexes of von Willebrand Factor to Predict Therapeutic Response in Hypertrophic Cardiomyopathy

shutterstock_128572832_smVon Willebrand disease is the most common inherited bleeding disorder worldwide, caused by the missing or defective von Willebrand factor (vWF), a blood-clotting protein. In a recent study published in the American Journal of Cardiology, Mayo Clinic researchers assessed if vWF testing could reflect the natural history of progression in hypertrophic cardiomyopathy and could accurately reflect responses to medical treatment and possibly predict prognosis.

Featured Abstracts

Phosphatidylinositol Phosphate Kinase PIPKIγ and Phosphatase INPP5E Coordinate Initiation of Ciliogenesis

shutterstock_150627875Defective primary cilia are causative to a wide spectrum of human genetic disorders, termed ciliopathies. Although the regulation of ciliogenesis is intensively studied, how it is initiated remains unclear. Mayo Clinic researchers conducted a study to show that type Iγ phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinase (PIPKIγ) and inositol polyphosphate-5-phosphatase E (INPP5E), a Joubert syndrome protein, localize to the centrosome and coordinate the initiation of ciliogenesis. PIPKIγ counteracts INPP5E in regulating tau-tubulin kinase-2 (TTBK2) recruitment to the basal body, which promotes the removal of microtubule capping protein CP110 and the subsequent axoneme elongation. The results revealed that PtdIns(4)P homoeostasis, coordinated by PIPKIγ and INPP5E at the centrosome/ciliary base, is vital for ciliogenesis by regulating the CEP164-dependent recruitment of TTBK2. The study was published in Nature Communications.

Published to PubMed This Week

Kelley Luedke (@kschrib)

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.