Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration

Marijne Vandebergh1, Eliana Marisa Ramos1, Nick Corriveau-Lecavalier1

  • 1From the VIB Center for Molecular Neurology (M.V., R.R., V.B., S.W.); Department of Biomedical Sciences (M.V., M.V.B., S.W., R.R.), University of Antwerp, Belgium; Department of Neurology (E.M.R., M.F.M.), David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (N.C.-L., V.K.R., T.K., K.K., B.F.B.); Department of Psychiatry and Psychology (N.C.-L., J.A.F., D.S.K., L.K.F.), Mayo Clinic, Rochester, MN; Department of Epidemiology and Biostatistics (J.K.), University of California, San Francisco; Department of Quantitative Health Sciences (C.M., D.E.B.), Mayo Clinic, Rochester, MN; Department of Neurology (A.M.S., A.A.W.), Memory and Aging Center, University of California, San Francisco; Weill Institute for Neurosciences, San Francisco, California; Institute for Precision Health (D.H.G.), Departments of Neurology, Psychiatry and Human Genetics at David Geffen School of Medicine, UCLA; Department of Neuroscience (T.G., L.P., M.B., N.R.G.-R.), Mayo Clinic, Jacksonville, FL; Alzheimer's Disease and Other Cognitive Disorders Unit (S.B.-É.), Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Fundació Clínic per a la Recerca Biomèdica, Uni; Department of Neurology (B.A., B.C.D.), Case Western Reserve University, Cleveland, OH; Department of Neurology (S.B.), University of Michigan, Ann Arbor; Department of Neurology (A.C.B.), University of North Carolina, Chapel Hill; Department of Neurology (D.C.), Indiana University, Indianapolis; Department of Neurology (R.R.D.), Vanderbilt University, Nashville, TN; Department of Neurology (K.D.-R.), University of Washington, Seattle, WA; Department of Neurosciences (D.G., G.C.L., I.L.), University of California, San Diego, La Jolla; Departments of Neurology and Psychiatry (N.G.), Washington University School of Medicine, Washington University, St. Louis, MO; Department of Psychiatry and Behavioral Sciences (I.M.G.), Northwestern Feinberg School of Medicine, Chicago, IL; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.S.H.), College of Physicians and Surgeons; Department of Neurology (L.S.H.), Columbia University, New York; Division of Neurology (G.-Y.R.H.), University of British Columbia, Vancouver, Canada; Department of Psychiatry and Human Behavior (E.D.H.), Alpert Medical School of Brown University, Providence, RI; Department of Neurology and Penn Frontotemporal Degeneration Center (D.J.I.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; National Institute of Neurological Disorders and Stroke (J.Y.K., A.S.), National Institutes of Health, Bethesda, MD; Department of Neurology (J.C.M., B.P.), Houston Methodist, TX; Department of Psychiatry and Behavioral Sciences (C.U.O.), Johns Hopkins University, Baltimore, MD; Department of Neurology (P.S.P.), University of Colorado, Aurora; Cleveland Clinic Lou Ruvo Center for Brain Health (A.R., D.W.), Las Vegas, NV; Department of Neurology (E.D.R.), University of Alabama at Birmingham; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases (A.C.S.), UT Health San Antonio; Tanz Centre for Research in Neurodegenerative Diseases (M.C.T.), Division of Neurology, University of Toronto, Ontario, Canada; Department of Neurology (H.W.H., A.L.B., H.J.R.), Memory and Aging Center, University of California, San Francisco; Weill Institute for Neurosciences, San Francisco, CA; and Department of Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL.

Neurology
|September 25, 2024
PubMed
Abstract

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Mutations01:39

Mutations

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...