Bibliographic Details
| Title: |
Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches |
| Authors: |
Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian |
| Source: |
Cells, Vol 12, Iss 13, p 1737 (2023) |
| Publisher Information: |
MDPI AG, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Cytology |
| Subject Terms: |
dopamine transporter deficiency syndrome, infantile parkinsonism-dystonia, neurotransmitter, gene therapy, SLC6A3, DAT, Cytology, QH573-671 |
| More Details: |
Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene. Advances in genomic analysis have revealed an evolving spectrum of SLC6A3-related neurological and neuropsychiatric disorders. Since the initial clinical and genetic characterisation of DTDS in 2009, there have been thirty-one published cases with a variety of protein-truncating variants (nonsense variants, splice-site changes, and deletions) and missense changes. Amino acid substitutions result in mutant proteins with impaired dopamine transporter function due to reduced transporter activity, impaired dopamine binding, reduced cell-surface expression, and aberrant posttranslational protein modification with impaired glycosylation. In this review, we provide an overview of the expanding clinical phenotype of DTDS and the precision therapies in development, including pharmacochaperones and gene therapy. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2073-4409 |
| Relation: |
https://www.mdpi.com/2073-4409/12/13/1737; https://doaj.org/toc/2073-4409 |
| DOI: |
10.3390/cells12131737 |
| Access URL: |
https://doaj.org/article/13b27937304742a694aef2d5149af478 |
| Accession Number: |
edsdoj.13b27937304742a694aef2d5149af478 |
| Database: |
Directory of Open Access Journals |
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