Neurodegeneration with Brain Iron Accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurodegenerative diseases. Our company is dedicated to advancing the research of NBIA. Our experienced team of researchers and scientists tirelessly develops innovative diagnostic and therapeutic approaches to manage this debilitating disease. We are your trusted partner in NBIA research, providing a streamlined and comprehensive solution for all your scientific research needs.
Overview of NBIA
NBIA refers to a cluster of inherited neurodegenerative disorders marked by the abnormal buildup of iron in the basal ganglia of the brain. NBIA causes progressive Parkinson's disease, spasticity, dystonia, retinal degeneration, optic atrophy, mental abnormalities, and other symptoms. NBIA is relatively rare, with an estimated incidence of 1 to 3 per million.
Fig. 1 Scheme of the proteins associated with NBIA disorders and their cellular localization. (Levi, Sonia, and Valeria Tiranti, 2019)The progression of NBIA is linked to genetic mutations in specific genes, encompassing those responsible for iron metabolism, coenzyme A biosynthesis, phospholipid metabolism, ceramide metabolism, lysosomal diseases, and genes with unidentified functions. These gene mutations perturb crucial cellular mechanisms, hinder iron balance, and result in the buildup of iron in the brain. As a result, neuronal death occurs, contributing to progressive degeneration of the nervous system. Currently, several genetic mutations have been identified that cause different subtypes of NBIA, as shown in the table below.
Table. 1 Types of NBIA. (Tonekaboni, et al., 2014)
| NBIA Subtype | Gene | Inheritance |
|---|---|---|
| Pantothenate Kinase-associated Neurodegeneration (PKAN) | PANK2 | AR |
| PLA2G6-associated Neurodegeneration (PLAN) | PLA2G6 | AR |
| Mitochondrial Membrane Protein-associated Neurodegeneration (MPAN) | C19orf12 | AR |
| Beta-propeller Protein-associated Neurodegeneration (BPAN) | WDR45 | XLD |
| Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) | FA2H | AR |
| Kufor-Rakeb Syndrome | ATP13A2 | AR |
| Neuroferritinopathy | FTL | AD |
| Aceruloplasminemia | FTL | AR |
| Woodhouse-Sakati Syndrome | DCAF17 | AR |
| Coasy Protein-associated Neurodegeneration (CoPAN) | COASY | AR |
Diagnostics Development of NBIA
Accurate diagnosis of NBIA is crucial for effective intervention of the disease. Diagnostic methods for NBIA include various imaging techniques to detect iron accumulation in specific brain regions.
DaT scans
Transcranial Doppler sonography (TCD)
PET scans
Magnetic resonance imaging (MRI)
Therapeutics Development of NBIA
No effective disease-modifying therapy has been found for any NBIA disease. Currently, scientists are focusing on the pathogenesis and potential targets of NBIA to explore effective therapeutics.
Iron Metabolism Pathways
Iron accumulation in the brain is the main mechanism causing NBIA, so regulating iron metabolism is one of the key targets. Iron chelators like Deferiprone have demonstrated promise in preclinical studies. These chelators have the potential to bind and remove excess iron, thereby alleviating the neurodegenerative effects caused by iron deposition.
Iron Metabolism Pathways
Targeting specific gene mutations is another important target for NBIA therapy development. Take PKAN as an example, which arises from mutations in the PANK2 gene. Experimental approaches, like gene therapies, seek to rectify genetic abnormalities to restore normal cellular function and slow down disease progression.
Our Services
With years of extensive involvement in rare disease research, our company boasts a highly skilled team and vast expertise. We harness state-of-the-art technology to drive the development of innovative diagnostic tools, enabling early detection of NBIA. By establishing animal models and conducting in-depth investigations into NBIA pathogenesis and targets, we advance therapeutic drug development.
Research Platforms of NBIA
Our Services
Animal Models of NBIA
| Genetically Engineered Models | ||
|---|---|---|
| Our company is dedicated to the development of genetic engineering models for NBIA. Through the utilization of gene knockout, knock-in and transgenic technology, we are able to create precise and dependable animal models. These models accurately replicate key features of NBIA, enabling researchers to study disease mechanisms, investigate potential therapeutic targets, and evaluate novel therapeutic strategies. | ||
| Optional Models |
|
|
| Optional Species | Mice, Fruit Flies, Others | |
No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Hayflick, Susan J., Manju A. Kurian, and Penelope Hogarth. "Neurodegeneration with brain iron accumulation." Handbook of clinical neurology 147 (2018): 293-305.
- Levi, Sonia, and Valeria Tiranti. "Neurodegeneration with brain iron accumulation disorders: valuable models aimed at understanding the pathogenesis of iron deposition." Pharmaceuticals 12.1 (2019): 27.
- Tonekaboni, Seyed Hassan, and Mohsen Mollamohammadi. "Neurodegeneration with brain iron accumulation: an overview." Iranian journal of child neurology 8.4 (2014): 1.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.