Special Issue "Genetic Variants in Dopamine Receptors and Neurodegenerative Diseases"
Deadline for manuscript submissions: closed (31 October 2020) | Viewed by 11818
Interests: clinical neurology; neuroimmunology; neurodegeneration
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Dopamine (DA) plays a critical role in both common (e.g., Alzheimer’s and Parkinson’s disease (AD and PD, respectively)) and uncommon neurodegenerative diseases (e.g., Prion disease, motor neuron disease, Huntington’s disease, spinocerebellar ataxia, spinal muscular atrophy). DA acts on five different dopaminergic receptors (DR) grouped into two families: The D1-like (D1 and D5) activate and the D2-like (D2, D3, and D4) receptors, which inhibit adenylate cyclase. Several genetic variants, in particular, single nucleotide polymorphisms (SNPs, i.e., DNA sequence variations occurring when a single nucleotide in the genome differs between paired chromosomes), have been described in DR genes (DR). The effects of DR variability have been investigated with regard to both disease susceptibility and clinical features. For example, there are reports documenting increased AD risk for carriers of specific DR SNPs. On the other hand, there is robust evidence showing that DR variations influence not only motor and nonmotor features of PD, but also the phenotype of several psychiatric diseases, such as schizophrenia, bipolar disorder, substance abuse, and addiction. Notwithstanding such acquisitions, significant knowledge gaps need to be bridged to translate basic evidence to clinical applications.
In light of these observations, the genetic variability in DR system represents an interesting target for investigating etiology, disease progression, and drug response in neurodegenerative diseases.
This Special Issue will encompass a selection of original research papers and reviews aimed at highlighting the currently available evidence on genetic variability in DRs and the progression as well as drug therapy response. This will eventually become a reference for those interested in the fields of phenotype variability and pharmacological response in neurodegenerative diseases.
Dr. Marco Ferrari
Prof. Dr. Cristoforo Comi
Prof. Dr. Franca Marino
Manuscript Submission Information
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- Dopamine receptors
- Neurodegenerative diseases
- Single nucleotide polymorphisms