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Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome is a progressive neurodegenerative disorder due to fundamental disturbances in the energy metabolism of mitochondria. As a preclinical research service provider dealing with mitochondrial disorders, Protheragen's vision is to provide all-around intelligent and tailor-made support and services to researchers and biotechnology companies.

Introduction to NARP Syndrome

NARP syndrome originates from a mutation in the MT-ATP6 gene, which can be found in the mitochondrial region. Mitochondria are known as cellular powerhouses; however, they also serve the additional purpose of housing the cell’s little amount of DNA. The MT-ATP6 gene is critical to the mitochondrion’s role because it oversees protein synthesis as well as ATP synthase formation, which is the last step of adenosine triphosphate (ATP) synthesis. ATP is the foremost energy currency of the cell. Mutations in the MT-ATP6 gene lead to insufficient amounts of ATP produced, thus disabling the mitochondria from sufficient ATP generation.

Allotopic expression is aimed at replacing the mutant protein (ATP6 or ATP8), restoring the ATP synthase function.Fig.1 Allotopic expression is aimed at replacing the mutant protein (ATP6 or ATP8), restoring the ATP synthase function. (Del Dotto, V., et al., 2024)

Research Progress of NARP Syndrome

The progress accomplished in the investigation of the NARP syndrome is notable. The focus of the research includes the following aspects.

Genetics and Molecular Mechanisms
NARP syndrome is associated with several mutations located in the MT-ATP6 gene which is part of the mitochondrial DNA. Scientists have identified that mutations in this gene cause NARP syndrome.

Mitochondrial Function and Metabolic Pathways
The studies of mitochondrial function involving other metabolic pathways are important for understanding the pathogenesis of NARP syndrome and for developing new therapy approaches.

Novel Diagnostic Methods of NARP Syndrome

NARP syndrome diagnosis is primarily through mutation detection in the MT-ATP6 gene. Other methods used for molecular genetic examination include mutation scanning, targeted variant analysis, sequence analysis of the entire coding region, sequence analysis of certain exons, and deletion/duplication analysis.

Novel Therapies of NARP Syndrome

While NARP syndrome does not have many therapy options available, symptomatic management has been effective. Different innovative therapeutic approaches are on the way which may prove effective.

Symptomatic Therapy

The approach to managing NARP syndrome mostly aims to alleviate symptoms, including ophthalmologic therapy of vision problems or psychotherapy for cognitive deficits.

Gene Therapy and Cell Therapy

The researchers are investigating the restoration of mitochondrial activity and relieving disease symptoms through gene editing and replacement of cells via cell tissues.

Our Services

Protheragen is equipped to serve the NARP syndrome research market with a full range of preclinical services thanks to modern preclinical research technology and world-class experience. Our professionals are devoted to the development of modern diagnostics and therapies in this area.

Mitochondrial Disease Diagnostics Development Service

The development of diagnostic services is our expertise, and we provide a diverse range of methods to ensure accurate diagnosis of NARP syndrome.

Therapeutics Development Services for Mitochondrial Diseases

Our multidisciplinary approach emphasizes new therapy modalities and the development of pharmaceuticals, cellular therapy, and gene therapy.


Our Advantages

Professional Team

Professional Team

Advanced Technologies

Advanced Technologies

Customized Solutions

Customized Solutions

Competitive Pricing

Competitive Pricing

For any inquiries related to our research and services, feel free to contact us. The team is always eager to assist you in finding a solution to the problem which would help in tackling this challenge and building a promising future for NARP syndrome.

Reference

  1. Del Dotto, V.; et al. (2024). Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies. International journal of molecular sciences, 25(4), 2239.

For research use only, not for clinical use.