HD In Vitro Disease Models
With years of project experience, Creative Biolabs is a well-deserved expert in the field of neuroscience research. Based on an advanced technology platform and professional expert team, we are confident in offering customer-satisfied Huntington's disease (HD) in vitro models and related services to global clients.
Targets and Mutations Involved in HD
HD is caused by the expansion of a polymorphic trinucleotide repeat (CAG)n, encoding glutamine, located in exon 1, at the N-terminal coding region of the huntingtin (HTT) gene. The HTT gene spans 180 kb and contains 67 exons. The only disease-causing mutation identified in the HTT gene is the CAG repeat expansion.
Fig.1 Multiple pathways for understanding the molecular mechanisms of neuronal dysfunction and death in HD. (Choi, 2014)
Table 1. Summary of work on genetic modifiers
| Putative modifier/association | Effect of modifier |
|---|---|
| Somatic expansion of abnormal allele | Earlier age of onset |
| PPARGC1A | Modifier of age of onset |
| PPARGC1A | Modifier of age of onset |
| Haplotype | Later age of onset |
| CAG length in normal allele | Dependent on length of abnormal allele |
| ADORA2A T/T variant at re5751876 | Earlier age of onset |
| PPARGC1A, TRAM, NRF1 | Modifier of age of onset |
| Haplotype C | Associated with lower CAG repeat length |
| PPARGC1A SNPs | Modifier of age of onset |
| SNPs in Kalirin gene | No association with age of onset |
| PPARGC1A rs 7665116 | No association with age of onset |
| HAP1 T441M polymorphism | No association with age of onset |
| CCG repeat in larger allele | No association with age of onset |
| ATG7 V471A polymorphism | Earlier age of onset |
| OGG1/XPC haplotypes | Earlier age of onset |
| GRIN2A, GRIN2B, DAT1, DRD4, DRD2, COMT | No association with age of onset |
| SLC2A3 (GLUT3) CNV (increased copies) | Later age of onset |
| PPARGC1A SNP rs3736265 | Earlier age of onset |
| NPY2R promoter SNP rs2234759 | Later age of onset |
HD In Vitro Models at Creative Biolabs
A renewable cell source for cell-based therapy must be capable of regenerating a specific mature cell type that is lost during disease progression. Creative Biolabs is an industry-leading neuroscience research services provider with years of project experience. Based on our comprehensive cell culture model platform, we are confident in providing our customers with high-quality HD in vitro modeling services including but not limited to:
- Cortico-striatal co-cultures in vitro models
- Primary striatal neurons in vitro models
- Fetal neural stem cells (NSCs)-based cell models
- Embryonic stem cells (ESCs)-based cell models
- Induced pluripotent stem cells (iPSCs)-based cell models
- Induced neural stem cells (iNSCs)-based cell models
- iPSC/hESC gene-edited cell models
If you are focusing on HD research or any other neuroscience research services, please feel free to contact us for more information.
Reference
- Choi, K. A.; et al. Stem cell therapy and cellular engineering for treatment of neuronal dysfunction in Huntington's disease. Biotechnol J. 2014, 9(7): 882-94.
