Literature DB >> 33022226

Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs.

Lien Nguyen1, Lauren A Laboissonniere1, Shu Guo1, Federica Pilotto2, Olivier Scheidegger3, Angelina Oestmann3, Jennetta W Hammond4, Herman Li4, Anu Hyysalo5, Roosa Peltola5, Amrutha Pattamatta1, Tao Zu1, Merja H Voutilainen5, Harris A Gelbard4, Smita Saxena3, Laura P W Ranum6.   

Abstract

Mordes et al. (2020) did not detect the survival or motor phenotypes in C9orf72 BAC transgenic mice originally described by Liu et al. (2016). We discuss methodological differences between the Mordes and Liu studies, several additional studies in which survival and motor phenotypes were found, and possible environmental and genetic effects. First, Nguyen et al. (2020) showed robust ALS/FTD phenotypes in C9-BAC versus non-transgenic (NT) mice and that α-GA1 treatment improved survival, behavior, and neurodegeneration. The groups of Gelbard and Saxena also show decreased survival of C9-BAC versus NT mice and neuropathological and behavioral deficits similar to those shown by Liu et al. (2016). Although FVB/N mice can have seizures, increases in seizure severity and death of C9 and NT animals, which may mask C9 disease phenotypes, have been observed in recent C9-500 FVB/NJ-bred cohorts. In summary, we provide an update on phenotypes seen in FVB C9-BAC mice and additional details to successfully use this model. This Matters Arising Response paper addresses the Mordes et al. (2020) Matters Arising paper, published concurrently in Neuron.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ALS/FTD; C9orf72; FVB strain background; RAN proteins; microsatellite repeat; motor neuron disease; repeat associated non-AUG (RAN) translation; repeat expansion mutation; seizures; transgenic mouse models

Mesh:

Substances:

Year:  2020        PMID: 33022226      PMCID: PMC8281452          DOI: 10.1016/j.neuron.2020.09.009

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  17 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

2.  G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences.

Authors:  Franz Faul; Edgar Erdfelder; Albert-Georg Lang; Axel Buchner
Journal:  Behav Res Methods       Date:  2007-05

3.  Lack of Chronic Histologic Lesions Supportive of Sublethal Spontaneous Seizures in FVB/N Mice.

Authors:  Rebecca A Kohnken; Denise J Schwahn
Journal:  Comp Med       Date:  2016-04       Impact factor: 0.982

4.  Genetic control of sensitivity to hippocampal cell death induced by kainic acid: a quantitative trait loci analysis.

Authors:  Paula Elyse Schauwecker; Robert W Williams; Julia Belen Santos
Journal:  J Comp Neurol       Date:  2004-09-06       Impact factor: 3.215

5.  Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice.

Authors:  Daniel A Mordes; Brett M Morrison; Xanthe H Ament; Christopher Cantrell; Joanie Mok; Pierce Eggan; Carolyn Xue; Jin-Yuan Wang; Kevin Eggan; Jeffrey D Rothstein
Journal:  Neuron       Date:  2020-10-05       Impact factor: 17.173

6.  Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.

Authors:  Owen M Peters; Gabriela Toro Cabrera; Helene Tran; Tania F Gendron; Jeanne E McKeon; Jake Metterville; Alexandra Weiss; Nicholas Wightman; Johnny Salameh; Juyhun Kim; Huaming Sun; Kevin B Boylan; Dennis Dickson; Zack Kennedy; Ziqiang Lin; Yong-Jie Zhang; Lillian Daughrity; Chris Jung; Fen-Biao Gao; Peter C Sapp; H Robert Horvitz; Daryl A Bosco; Solange P Brown; Pieter de Jong; Leonard Petrucelli; Chris Mueller; Robert H Brown
Journal:  Neuron       Date:  2015-12-02       Impact factor: 17.173

7.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

8.  Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model.

Authors:  Lien Nguyen; Fabio Montrasio; Amrutha Pattamatta; Solaleh Khoramian Tusi; Olgert Bardhi; Kevin D Meyer; Lindsey Hayes; Katsuya Nakamura; Monica Banez-Coronel; Alyssa Coyne; Shu Guo; Lauren A Laboissonniere; Yuanzheng Gu; Saravanakumar Narayanan; Benjamin Smith; Roger M Nitsch; Mark W Kankel; Mia Rushe; Jeffrey Rothstein; Tao Zu; Jan Grimm; Laura P W Ranum
Journal:  Neuron       Date:  2019-12-09       Impact factor: 17.173

9.  Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

Authors:  Vincenzo A Gennarino; Ravi K Singh; Joshua J White; Antonia De Maio; Kihoon Han; Ji-Yoen Kim; Paymaan Jafar-Nejad; Alberto di Ronza; Hyojin Kang; Layal S Sayegh; Thomas A Cooper; Harry T Orr; Roy V Sillitoe; Huda Y Zoghbi
Journal:  Cell       Date:  2015-03-12       Impact factor: 41.582

10.  Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.

Authors:  Elaine M Cleary; Suvankar Pal; Tara Azam; David J Moore; Robert Swingler; George Gorrie; Laura Stephenson; Shuna Colville; Siddharthan Chandran; Mary Porteous; Jon P Warner
Journal:  Mol Cell Probes       Date:  2016-06-07       Impact factor: 2.365

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3.  C9orf72 Hexanucleotide Repeat Expansion-Related Neuropathology Is Attenuated by Nasal Rifampicin in Mice.

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4.  Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.

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6.  PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.

Authors:  Federica Pilotto; Alexander Schmitz; Niran Maharjan; Rim Diab; Adolfo Odriozola; Priyanka Tripathi; Alfred Yamoah; Olivier Scheidegger; Angelina Oestmann; Cassandra N Dennys; Shrestha Sinha Ray; Rochelle Rodrigo; Stephen Kolb; Eleonora Aronica; Stefano Di Santo; Hans Rudolf Widmer; Nicolas Charlet-Berguerand; Bhuvaneish T Selvaraj; Siddharthan Chandran; Kathrin Meyer; Benoît Zuber; Anand Goswami; Joachim Weis; Smita Saxena
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