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C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.

Abstract ATTRV30M amyloid neuropathy is a lethal autosomal dominant sensorimotor and autonomic neuropathy, caused by deposition of amyloid fibrils composed of aberrant transthyretin (TTR). Ages of onset and penetrance exhibit great variability and genetic factors have been implicated. Complement activation co-localizes with amyloid deposits in amyloidotic neuropathy and is possibly involved in the kinetics of amyloidogenesis. A candidate gene approach has recently identified C1q polymorphisms to correlate with disease onset in a Cypriot cohort of patients with ATTRV30M amyloid neuropathy. In the current study we use a double transgenic mouse model of ATTRV30M amyloid neuropathy in which C1q is ablated to elucidate further a possible modifier role for C1q. Amyloid deposition is found to be increased by 60% in the absence of C1q. Significant up regulation is also recorded in apoptotic and cellular stress markers reflecting extracellular toxicity of pre-fibrillar and fibrillar TTR. Our data further indicate that in the absence of C1q there is marked reduction of macrophages in association with amyloid deposits and thus less effective phagocytosis of TTR.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title plos one
Publication Year Start




PMID- 28407005
OWN - NLM
STAT- MEDLINE
DA  - 20170413
DCOM- 20170420
LR  - 20170420
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 12
IP  - 4
DP  - 2017
TI  - C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model 
      of ATTRV30M amyloid neuropathy.
PG  - e0175767
LID - 10.1371/journal.pone.0175767 [doi]
AB  - ATTRV30M amyloid neuropathy is a lethal autosomal dominant sensorimotor and
      autonomic neuropathy, caused by deposition of amyloid fibrils composed of
      aberrant transthyretin (TTR). Ages of onset and penetrance exhibit great
      variability and genetic factors have been implicated. Complement activation
      co-localizes with amyloid deposits in amyloidotic neuropathy and is possibly
      involved in the kinetics of amyloidogenesis. A candidate gene approach has
      recently identified C1q polymorphisms to correlate with disease onset in a
      Cypriot cohort of patients with ATTRV30M amyloid neuropathy. In the current study
      we use a double transgenic mouse model of ATTRV30M amyloid neuropathy in which
      C1q is ablated to elucidate further a possible modifier role for C1q. Amyloid
      deposition is found to be increased by 60% in the absence of C1q. Significant up 
      regulation is also recorded in apoptotic and cellular stress markers reflecting
      extracellular toxicity of pre-fibrillar and fibrillar TTR. Our data further
      indicate that in the absence of C1q there is marked reduction of macrophages in
      association with amyloid deposits and thus less effective phagocytosis of TTR.
FAU - Panayiotou, Elena
AU  - Panayiotou E
AD  - Clinic A, Neuropathology Department, The Cyprus Institute of Neurology &
      Genetics, Nicosia, Cyprus.
FAU - Fella, Eleni
AU  - Fella E
AD  - The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
FAU - Papacharalambous, Revekka
AU  - Papacharalambous R
AD  - Clinic A, Neuropathology Department, The Cyprus Institute of Neurology &
      Genetics, Nicosia, Cyprus.
FAU - Malas, Stavros
AU  - Malas S
AD  - Clinic A, Neuropathology Department, The Cyprus Institute of Neurology &
      Genetics, Nicosia, Cyprus.
FAU - Saraiva, Maria Joao
AU  - Saraiva MJ
AD  - Instituto de Inovacao e Investigacao em Saude (I3S) and Neurobiologia
      Molecular-Instituto de Biologia Molecular (IBMC) - Universidade do Porto, Porto, 
      Portugal.
FAU - Kyriakides, Theodoros
AU  - Kyriakides T
AUID- ORCID: http://orcid.org/0000-0002-0017-7143
AD  - Clinic A, Neuropathology Department, The Cyprus Institute of Neurology &
      Genetics, Nicosia, Cyprus.
AD  - The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
LA  - eng
PT  - Journal Article
DEP - 20170413
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - 0 (Amyloid)
RN  - 0 (Complement C1)
RN  - 0 (Prealbumin)
SB  - IM
MH  - Amyloid/*metabolism
MH  - Amyloid Neuropathies, Familial/genetics/metabolism/*pathology
MH  - Animals
MH  - Apoptosis
MH  - Complement C1/*deficiency
MH  - Disease Models, Animal
MH  - Female
MH  - Humans
MH  - Mice
MH  - Mice, Transgenic
MH  - Mutation
MH  - Prealbumin/*genetics/metabolism
EDAT- 2017/04/14 06:00
MHDA- 2017/04/21 06:00
CRDT- 2017/04/14 06:00
PHST- 2017/01/16 [received]
PHST- 2017/03/30 [accepted]
AID - 10.1371/journal.pone.0175767 [doi]
AID - PONE-D-17-01982 [pii]
PST - epublish
SO  - PLoS One. 2017 Apr 13;12(4):e0175767. doi: 10.1371/journal.pone.0175767.
      eCollection 2017.

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