Chromosome 3-Linked Frontotemporal Dementia

Also Known As:

Amyotrophic Lateral Sclerosis, Chmp2B-Related; Chmp2b-Related Frontotemporal Dementia; Dementia, Familial Nonspecific; Dtm1; Frontotemporal Dementia, Chromosome 3-Linked; Ftd-3; Ftd-Chmp2b; Ftd3

Networked: 25 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Frontotemporal Dementia (Semantic Dementia)
2.	Motor Neuron Disease (Primary Lateral Sclerosis)
3.	Chromosome 3-Linked Frontotemporal Dementia
4.	Tauopathies

Experts

1.	Nielsen, Jørgen E: 7 articles (11/2021 - 01/2016)
2.	Gao, Fen-Biao: 7 articles (01/2020 - 09/2007)
3.	Lee, Jin-A: 7 articles (12/2015 - 09/2007)
4.	Freude, Kristine K: 5 articles (11/2021 - 01/2016)
5.	Hyttel, Poul: 5 articles (11/2021 - 01/2016)
6.	Zhang, Yu: 5 articles (11/2021 - 01/2016)
7.	Nielsen, Troels T: 5 articles (01/2020 - 01/2016)
8.	Schmid, Benjamin: 4 articles (11/2021 - 01/2016)
9.	Aldana, Blanca I: 3 articles (11/2021 - 01/2017)
10.	Johannsen, Peter: 3 articles (01/2020 - 10/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 3-Linked Frontotemporal Dementia:

1.	UbiquitinIBA 01/01/2016 - "Furthermore, neurons in the affected spinal cord and brain regions showed accumulation of p62-positive cytoplasmic inclusions associated or not with ubiquitin and CHMP2Bintron5 As observed in FTD3 patients, these inclusions were negative for TDP-43 and FUS. " 10/01/2007 - "The finding of ubiquitin- and p62-positive, TDP-43-negative cytoplasmic inclusions in the hippocampus and neocortex suggests reclassification of the neuropathology of FTD-3 as a unique subtype of frontotemporal lobar degeneration with ubiquitin-positive inclusions that are TDP-43-negative." 08/01/2003 - "Abnormal aggregates of tau protein characterize the brain lesions of FTDP-17 patients and ubiquitin inclusions have been found in FTD with motor neuron disease linked to chromosome 9. In this study the frontal cortices of 3 FTD-3 patients from a unique Danish family were examined for characteristic neuropathological features. "
2.	tau Proteins (tau Protein)IBA 08/01/2003 - "The presence of filamentous tau protein in the frontal cortex of these patients suggests a possible link between tau and the genetic defect present on chromosome 3 and associated with FTD-3, although the limited amount of tau deposits observed makes it difficult to define this as a tauopathy." 08/01/2003 - "Abnormal aggregates of tau protein characterize the brain lesions of FTDP-17 patients and ubiquitin inclusions have been found in FTD with motor neuron disease linked to chromosome 9. In this study the frontal cortices of 3 FTD-3 patients from a unique Danish family were examined for characteristic neuropathological features. "
3.	SpastinIBA 11/22/2022 - "Thus, our study reveals that the enhanced association between mutant CHMP2B and spastin represents a novel potential pathological link between FTD3 and HSP." 11/22/2022 - "Moreover, genetic knockdown of spastin enhances CHMP2BIntron5 toxicity in a Drosophila model of FTD3, indicating the functional significance of their association. " 11/22/2022 - "These pathological features of spastin are validated in brain neurons of a mouse model of FTD3. "
4.	Proteins (Proteins, Gene)FDA Link 10/01/2023 - "FTD linked to chromosome 3 (FTD3) is a rare sub-form of the disease, caused by a point mutation in the Charged Multivesicular Body Protein 2B (CHMP2B). " 12/10/2015 - "Mutations in charged multivesicular body protein 2B (CHMP2B), which is involved in endosomal protein trafficking, have been found in chromosome 3-linked frontotemporal dementia. " 03/05/1993 - "In contrast, a fusion protein between the same sFv and a DT mutant, DTM1 (containing two amino acid substitutions in the binding domain [S(508)F, S(525)F]) was not significantly cytotoxic, despite being enzymatically active. " 11/09/2021 - "Frontotemporal dementia type 3 (FTD3), caused by a point mutation in the charged multivesicular body protein 2B (CHMP2B), affects mitochondrial ultrastructure and the endolysosomal pathway in neurons. " 01/01/2017 - "The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). "
5.	Endosomal Sorting Complexes Required for TransportIBA 07/21/2009 - "Rare pathogenic mutations in CHMP2B, which encodes a component of the endosomal sorting complex required for transport (ESCRT-III), are associated with FTD linked to chromosome 3 (FTD3). " 02/01/2014 - "A mutation in CHMP2B (CHMP2B(Intron5), an ESCRT-III component) that is associated with a hereditary form of frontotemporal dementia (FTD3) disrupts the endosomal-lysosomal pathway and causes accumulation of autophagosomes and multilamellar structures. " 10/01/2009 - "In flies and cultured mammalian cells, autophagosomes accumulate when ESCRT-III is rendered dysfunctional by reduced activity of its subunits or by ectopic expression of mutant CHMP2B associated with frontotemporal dementia linked to chromosome 3 (FTD3). " 12/31/2008 - "Interestingly, rare mutations in CHMP2B, an ESCRT-III subunit, are associated with frontotemporal dementia linked to chromosome 3 (FTD3). " 09/18/2007 - "mSnf7-2 binds to CHMP2B, another ESCRT-III subunit, in which a rare dominant mutation is associated with frontotemporal dementia linked to chromosome 3 (FTD3). "
6.	Glutamine (L-Glutamine)FDA Link 10/01/2023 - "Metabolic mapping confirmed these differences, revealing a metabolic reprogramming of the CHMP2B FTD3 microglia, displayed as a compensatory up-regulation of glutamine metabolism in the CHMP2B homozygous FTD3 microglia. " 01/01/2020 - "FTD3 neuronal glutamine hypermetabolism is associated with up-regulation of PAG expression and, possibly, ROS production. " 01/01/2020 - "Endogenous glutamate generated from glutamine via PAG may enter the TCA cycle via AAT (left side of neuron) while exogenous glutamate taken up from the extracellular space may be incorporated into the TCA cycle via GDH (right side of the neuron) FTD3 astrocytic glutamate uptake is upregulated whilst glutamate metabolism is largely maintained. " 01/01/2020 - "Our findings implicate dysregulation of glutamate-glutamine homeostasis in FTD3 pathogenesis. " 01/01/2020 - "FTD3 neurons show a dysregulation of glutamate-glutamine related metabolic pathways mapped by 13C-labelling coupled to mass spectrometry. "
7.	LipopeptidesIBA 12/01/2015 - "Cyclic Lipopeptides with Herbicidal and Insecticidal Activities Produced by Bacillus clausii DTM1." 12/01/2015 - "Seven cyclic lipopeptide biosurfactants (1-7) were isolated for the first time from the fermentation broth of endophytic Bacillus clausii DTM1 and were identified as anteisoC13[Val7] surfactin-(L-Glu)-O-methyl-ester (1), anteisoC12[Val7] surfactin (2), anteisoC15[Val7] surfactin (3), isoC14[Leu7] surfactin (4), anteisoC12[Leu7] surfactin (5), nC13[Leu7] surfactin (6), and anteisoC14[Leu7] surfactin-(L-Glu)-O-methyl-ester (7); 1 has not been isolated before as a natural product from any source. "
8.	Merozoite Surface Protein 1 (MSA1)IBA 04/01/2012 - "These results, together with their mutant phenotypes, suggest that DTM1 plays important roles in the ER membrane during early tapetum development, functioning after MSP1 and before UDT1, and also in meiocyte development, after MEL1 and before PAIR1." 04/01/2012 - "Moreover, transcripts of DTM1 were reduced in msp1 mutant anthers, but not in udt1 and pair1 mutants. " 04/01/2012 - "However, expression of MSP1 and MEL1, which function in anther wall specification and germ cell division, respectively, was not altered in the dtm1 mutant. "
9.	Glutamic Acid (Glutamate)FDA Link 01/01/2020 - "Finally, pharmacological reversal of glutamate hypometabolism manifesting from decreased GDH expression should be explored as a novel therapeutic intervention for treating FTD3." 01/01/2020 - "Distinct compartments of glutamate metabolism can be suggested for the FTD3 neurons. " 01/01/2020 - "FTD3 astrocytes show increased uptake of glutamate whilst glutamate metabolism is largely maintained. " 01/01/2020 - "Endogenous glutamate generated from glutamine via PAG may enter the TCA cycle via AAT (left side of neuron) while exogenous glutamate taken up from the extracellular space may be incorporated into the TCA cycle via GDH (right side of the neuron) FTD3 astrocytic glutamate uptake is upregulated whilst glutamate metabolism is largely maintained. " 01/01/2020 - "Our findings implicate dysregulation of glutamate-glutamine homeostasis in FTD3 pathogenesis. "
10.	Reactive Oxygen Species (Oxygen Radicals)IBA 11/09/2021 - "Our data provide mechanistic insights into how defective autophagy causes perturbed mitochondrial dynamics with impaired glycolysis, increased reactive oxygen species, and elongated mitochondrial morphology, indicating increased mitochondrial fusion in FTD3 astrocytes. "