Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

Roland, Bartholomew P.; Zeccola, Alison M.; Larsen, Samantha B.; Amrich, Christopher G.; Talsma, Aaron D.; Stuchul, Kimberly A.; Heroux, Annie; Levitan, Edwin S.; VanDemark, Andrew P.; Palladino, Michael J.; Pallanck, Leo J.

doi:10.1371/journal.pgen.1005941

Title: Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

Journal Article · Thu Mar 31 00:00:00 EDT 2016 · PLoS Genetics

DOI:https://doi.org/10.1371/journal.pgen.1005941· OSTI ID:1354340

Roland, Bartholomew P.; Zeccola, Alison M.; Larsen, Samantha B.; Amrich, Christopher G.; Talsma, Aaron D.; Stuchul, Kimberly A.; Heroux, Annie; Levitan, Edwin S.; VanDemark, Andrew P.; Palladino, Michael J.; Pallanck, Leo J.

Triosephosphate isomerase (TPI) deficiency is a poorly understood disease characterized by hemolytic anemia, cardiomyopathy, neurologic dysfunction, and early death. TPI deficiency is one of a group of diseases known as glycolytic enzymopathies, but is unique for its severe patient neuropathology and early mortality. The disease is caused by missense mutations and dysfunction in the glycolytic enzyme, TPI. Previous studies have detailed structural and catalytic changes elicited by disease-associated TPI substitutions, and samples of patient erythrocytes have yielded insight into patient hemolytic anemia; however, the neuropathophysiology of this disease remains a mystery. This study combines structural, biochemical, and genetic approaches to demonstrate that perturbations of the TPI dimer interface are sufficient to elicit TPI deficiency neuropathogenesis. The present study demonstrates that neurologic dysfunction resulting from TPI deficiency is characterized by synaptic vesicle dysfunction, and can be attenuated with catalytically inactive TPI. Collectively, our findings are the first to identify, to our knowledge, a functional synaptic defect in TPI deficiency derived from molecular changes in the TPI dimer interface.

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Research Organization:: Brookhaven National Laboratory (BNL), Upton, NY (United States)

Sponsoring Organization:: USDOE Office of Science (SC), Basic Energy Sciences (BES)

DOE Contract Number:: SC00112704

OSTI ID:: 1354340

Report Number(s):: BNL-112856-2016-JA

Journal Information:: PLoS Genetics, Vol. 12, Issue 3; ISSN 1553-7404

Publisher:: Public Library of Science

Country of Publication:: United States

Language:: English

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Medical and Veterinary Importance of the Moonlighting Functions of Triosephosphate Isomerase Rodríguez-Bolaños, Mónica; Perez-Montfort, Ruy Current Protein & Peptide Science, Vol. 20, Issue 4 https://doi.org/10.2174/1389203719666181026170751	journal	February 2019
Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency Conway, Ashlee J.; Brown, Fiona C.; Hortle, Elinor J. Disease Models & Mechanisms, Vol. 11, Issue 5 https://doi.org/10.1242/dmm.034678	journal	April 2018
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency Segal, Joanna; Mülleder, Michael; Krüger, Antje Journal of Inherited Metabolic Disease, Vol. 42, Issue 5 https://doi.org/10.1002/jimd.12105	journal	June 2019
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. Segal, Joanna; Mülleder, Michael; Krüger, Antje The Francis Crick Institute https://doi.org/10.25418/crick.11548551.v1	text	January 2020

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Title: Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

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