Background:
Angelman Syndrome (AS) is a congenital non inherited neurodevelopmental
disorder. The contemporary AS management is symptomatic and it has been accepted that gene therapy
may play a key role in the treatment of AS.
Objective:
The purpose of this study is to summarize existing and suggested gene therapy approaches
to Angelman syndrome.
Methods:
This is a literature review. Pubmed and Scopus databases were researched with keywords
(gene therapy, Angelman’s syndrome, neurological disorders, neonates). Peer-reviewed studies that
were closely related to gene therapies in Angelman syndrome and available in English, Greek, Ukrainian
or Indonesian were included. Studies that were published before 2000 were excluded and did not
align with the aforementioned criteria.
Results:
UBE3A serves multiple roles in signaling and degradation procedures. Although the restoration
of UBE3A expression rather than targeting known activities of the molecule would be the optimal
therapeutic goal, it is not possible so far. Reinstatement of paternal UBE3A appears as an adequate alternative.
This can be achieved by administering topoisomerase-I inhibitors or reducing UBE3A antisense
transcript (UBE3A-ATS), a molecule which silences paternal UBE3A.
Conclusion:
Understanding UBE3A imprinting unravels the path to an etiologic treatment of AS.
Gene therapy models tested on mice appeared less effective than anticipated pointing out that activation
of paternal UBE3A cannot counteract the existing CNS defects. On the other hand, targeting abnormal
downstream cell signaling pathways has provided promising rescue effects. Perhaps, combined
reinstatement of paternal UBE3A expression with abnormal signaling pathways-oriented treatment is
expected to provide better therapeutic effects. However, AS gene therapy remains debatable in pharmacoeconomics
and ethics context.
The COVID-19 pandemic has had a dire effect on young people. Recent studies have reported its impact on several mental health domains in this population group. However little has been discussed about the influence of disrupted education and socialization on the linguistic ability of young people. We report early observations from a cross - sectional study conducted among university students in Thessaloniki, Greece. Approximately 3 out of 4 participants observed foreign terms to be introduced in their everyday language, and most of them reported that they have used terms coming from at least 3 different languages. More than half of the participants agreed that the current changes to their vocabulary may have an impact ontheir future linguistic competence, and about one third of them expressed fears that nationallanguages will be negatively impacted by the situation. Nevertheless, approximately two thirds of them disagreed with the latter and opted for enhancing biology and health literacy rather than language in educational curricula. Overall, university students in Greece consider that the pandemic has diversified their vocabulary and potentially affected their linguistic competence. Integrating this knowledge in the current understanding of youth's mental health amidst COVID-19 can help researchers and healthcare practitioners meet the needs of this population group.
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