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@PHDTHESIS{Stndl:144819,
author = {Stündl, Anne-Katrin},
title = {{C}haracterization of exosomes as a diagnostic marker in
neurodegenerative diseases},
school = {Georg-August-Universität zu Göttingen},
type = {Dissertation},
reportid = {DZNE-2020-00261},
pages = {95 pages : illustrations, XII},
year = {2016},
note = {Dissertation, Georg-August-Universität zu Göttingen,
2016},
abstract = {α-Synuclein pathology has been hypothesized to propagate
in synucleinopathies by intercellular transfer of pathogenic
seeds in a prion-like fashion. Extracellular release of
α-Synuclein via small extracellular vesicles has been
proposed as one of the mechanisms of cell-to-cell disease
transmission. In vitro, extracellular α-Synuclein has been
detected in exosomal vesicles and we have recently provided
evidence that α-Synuclein is present in exosomes in the
central nervous system in vivo. We hypothesized that
exosomes from patients with α Synuclein related
neurodegeneration serve as carriers for interneuronal
disease transfer. In this study, we purified exosomes from
cerebrospinal fluid from patients with synucleinopathies
including Parkinson`s disease and dementia with Lewy bodies,
progressive supranuclear palsy as an example of a disease
that clinically overlaps with Parkinson`s disease but
without underlying α-Synuclein pathology and other
neurological controls without neurodegenerative diseases.
Exosome numbers and exosomal α-Synuclein levels were
quantified and their potential to induce aggregation of
soluble α-Synuclein was evaluated. We observed differences
in cerebrospinal fluid exosomal α-Synuclein levels between
patients with Parkinson`s disease and dementia with Lewy
bodies and between dementia with Lewy bodies and controls.
In addition, exosomal α-Synuclein levels correlated with
cognitive decline and Tau levels as a marker of
neurodegeneration in dementia with Lewy bodies. By analyzing
exosomal α-Synuclein levels and exosome numbers, we were
able to distinguish Parkinson`s disease from dementia with
Lewy bodies and controls as well as dementia with Lewy
bodies from Parkinson`s disease and controls with high
sensitivity and specificity. Importantly, cerebrospinal
fluid exosomes from Parkinson`s disease and dementia with
Lewy bodies disease patients induced aggregation of
α-Synuclein in a reporter cell model, dependent on the
amount of exosomal α-Synuclein. Thus, exosomal α-Synuclein
could serve as a diagnostic biomarker for α-Synuclein
related neurodegenerative diseases and as a progression
marker in dementia with Lewy bodies. These findings further
indicate that cerebrospinal fluid derived exosomes from
patients with Parkinson`s disease and dementia with Lewy
bodies contain a pathogenic α-Synuclein species, which
induces aggregation of endogenous α-Synuclein in recipient
neurons and therefore could transmit disease pathology.
Since multiple recent therapy trials in Alzheimer`s disease
have failed and therapeutic interventions are most promising
in early and even preclinical stages, the accurate
identification of patients with Alzheimer`s disease is
indispensable. Therefore, diagnostic and prognostic
biomarkers are required and identification of such markers
would also give insight into the underlying molecular
mechanisms of Alzheimer`s disease pathology. Accumulating
evidence suggests that dysregulation of processes, which
physiologically regulate gene expression, plays an important
role in the pathogenesis of neurodegenerative diseases.
Additionally, dysregulation of small non-coding RNAs in
Alzheimer`s disease brain has been shown in various studies.
In our second study, we analyzed the small non-coding RNA
composition of exosomes derived from human cerebrospinal
fluid in order to test whether exosomal small non-coding RNA
profiles can be used as a disease signature for Alzheimer`s
disease. Here, we show that genome-wide profiling of
cerebrospinal fluid exosomal small non-coding RNA expression
reveals a specific small RNA signature which differentiates
Alzheimer`s disease from cognitive healthy controls. Thus,
our selected set of exosomal small non-coding RNAs could be
used as a potential biomarker in the future, replication in
a larger validation cohort provided.},
cin = {AG Schneider Göttingen},
cid = {I:(DE-2719)1440011},
pnm = {344 - Clinical and Health Care Research (POF3-344)},
pid = {G:(DE-HGF)POF3-344},
typ = {PUB:(DE-HGF)11},
doi = {10.53846/goediss-5944},
url = {https://pub.dzne.de/record/144819},
}