Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

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 gene. Advances in genomic analysis have revealed an evolving spectrum of -related neurological and neuropsychiatric...

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Published inCells (Basel, Switzerland) Vol. 12; no. 13; p. 1737
Main Authors Ng, Joanne, Barral, Serena, Waddington, Simon N, Kurian, Manju A
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 28.06.2023
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Abstract 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 gene. Advances in genomic analysis have revealed an evolving spectrum of -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.
AbstractList 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.
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 gene. Advances in genomic analysis have revealed an evolving spectrum of -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.
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.
Audience Academic
Author Waddington, Simon N
Ng, Joanne
Kurian, Manju A
Barral, Serena
AuthorAffiliation 4 Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa
3 Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS UCL Institute of Child Health, University College London, London WC1N 1DZ, UK; s.barral@ucl.ac.uk
2 Genetic Therapy Accelerator Centre, Queens Square Institute of Neurology, University College London, London WC1N 3BG, UK
5 Paediatric Neurology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
1 Gene Transfer Technology Group, EGA UCL Institute for Women’s Health, University College London, London WC1E 6HX, UK; j.ng@ucl.ac.uk (J.N.); s.waddington@ucl.ac.uk (S.N.W.)
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– name: 1 Gene Transfer Technology Group, EGA UCL Institute for Women’s Health, University College London, London WC1E 6HX, UK; j.ng@ucl.ac.uk (J.N.); s.waddington@ucl.ac.uk (S.N.W.)
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Issue 13
Keywords DAT
iPSC
gene therapy
infantile parkinsonism-dystonia
neurotransmitter
SLC6A3
dopamine transporter deficiency syndrome
Language English
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Snippet Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic...
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SubjectTerms Amino acid sequence
Attention deficit hyperactivity disorder
Autism
Basal ganglia
Bipolar disorder
Care and treatment
Cell surface
Central nervous system diseases
Cerebrospinal fluid
Children
Communication
DAT
Diagnosis
Dopamine
Dopamine Plasma Membrane Transport Proteins - genetics
Dopamine transporter
dopamine transporter deficiency syndrome
Drug therapy
Dyskinesia
Dystonia
Gene therapy
Genomic analysis
Genotype & phenotype
Glycosylation
infantile parkinsonism-dystonia
Mental disorders
Methods
Movement disorders
Neurodegeneration
Neurological diseases
neurotransmitter
Orthopedics
Ostomy
Parkinson's disease
Phenotype
Phenotypes
Precision Medicine
Protein transport
Review
SLC6A3
Tremor (Muscular contraction)
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Title Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches
URI https://www.ncbi.nlm.nih.gov/pubmed/37443770
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Volume 12
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