Fatal familial insomnia (FFI) is a rare and ultimately fatal genetic neurodegenerative disorder. It is classified as a prion disease, a group of conditions that progressively impact the brain and the nervous system. Our company, positioned at the forefront of infectious disease research, offers a comprehensive suite of integrated vaccine and therapeutic development services tailored to support researchers and scientists in the specialized field of FFI.
Overview of Fatal Familial Insomnia (FFI)
FFI, characterized as a hereditary prion protein disease, emerges as a rare long chromosome mutation disease with significant implications for those affected. The presentation of FFI often begins with a gradual onset of symptoms, notably marked by progressively worsening insomnia, culminating in a complete inability to attain restorative sleep. Alongside this hallmark symptom, individuals with FFI may experience a spectrum of challenges including hallucinations, cognitive impairment, and unexplained weight loss.
Fig.1 The cranial magnetic resonance imaging (MRI) results. (Yukang, T., et al., 2021)
Pathogenesis of Fatal Familial Insomnia (FFI)
The underlying pathology of FFI revolves around the aberrant production of an abnormal prion protein (PrPSc) due to the mutated PRNP gene. This misfolded protein accumulates within the brain, instigating neuronal damage and eventual cell death. One distinct feature of FFI is its association with a mutation at codon 178 of the prion protein gene, leading to a D178N substitution in the protein. This mutation triggers severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei, resulting in the manifestation of debilitating symptoms.
Fig.2 Physiological functions of disease-onset-associated genes and PRNP. (Thüne, K., et al., 2023)
Vaccine and Therapeutic Development for Fatal Familial Insomnia (FFI)
Vaccine Development
Some research is exploring potential vaccine strategies to address the challenge of vaccine development due to the rarity and complexity of FFI.
- DNA vaccines that encode specific PrP sequences.
- Utilizes modified forms of the PrP, including truncated, dimeric, heterologous, and crosslinked PrP peptides.
- Employs bacterial or viral vectors as a means to bypass immune tolerance and induce a protective immune response against FFI.
Therapeutic Development
Therapeutic strategies being explored for prion diseases, including FFI, include antiprion compounds, immunotherapy, and gene therapy.
- Antiprion compounds aim to inhibit the formation or propagation of abnormal prion proteins, such as amphotericin B.
- Immunotherapy involves using antibodies to target and clear abnormal prion proteins.
- Gene therapy involves introducing normal copies of the PRNP gene to replace the mutated gene responsible for FFI.
Our Services
The advanced infectious disease model, and vaccine and therapeutic development platform of our company, enable researchers to access a wide range of resources efficiently. Our integrated approach fosters collaboration and knowledge sharing among experts and provides a collaborative environment conducive to innovation and breakthroughs in understanding and combatting diseases like FFI.
Vaccine Development Platforms
Therapeutic Development Platforms
Infectious Disease Models
Animal models provide a valuable tool for understanding disease mechanisms and testing potential therapeutics. Our company offers a variety of animal models for you to better understand the complexity of FFI, with the ultimate goal of identifying effective therapeutics and interventions for this condition.
Transgenic animals that express mutated forms of the human prion protein gene associated with FFI have been utilized to study prion diseases, they can develop symptoms of FFI.
Optional Models: ki-3F4-FFI; Tg15972; FFI-K5, etc.
Why Choose Us
With a steadfast commitment to excellence, cutting-edge technologies, and unwavering support, our company empowers researchers to advance the frontiers of knowledge in infectious disease research, ultimately driving progress and improving outcomes in this critical study area.
If you are interested in our services, we invite you to contact us for further information and to obtain detailed quotations.
References
- Yukang, Tan et al. "A fatal familial insomnia patient newly diagnosed as having depression: A case report." Medicine 100.41 (2021): e27544.
- Thüne, Katrin et al. "Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia." Cells 12.16 (2023): 2053.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
