Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome is a progressive neurodegenerative disorder resulting from mitochondrial energy generation abnormalities. As a preclinical contract research organization (CRO) specializing in mitochondrial diseases, Protheragen' mission is to offer comprehensive support and services to researchers and biotechnology companies.
Introduction to NARP Syndrome
NARP syndrome is a result of mutations in the MT-ATP6 gene, which is located within mitochondrial DNA (mtDNA). Although mitochondria primarily function to produce energy, they also contain a small amount of DNA. The MT-ATP6 gene plays a crucial role in ensuring efficient mitochondrial function by regulating protein production and ATP synthase formation - the final step in adenosine triphosphate (ATP) creation, which serves as the cell's primary source of energy. When mutations occur within the MT-ATP6 gene, it impairs mitochondria's ability to generate sufficient amounts of ATP.
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
Significant advancements have been achieved in the investigation of NARP syndrome. The primary areas of research encompass the subsequent aspects.
Genetics and Molecular Mechanisms
The MT-ATP6 gene, located in mitochondrial DNA, is responsible for regulating mitochondrial function, particularly ATP synthesis. Scientists have identified that mutations in this gene cause NARP syndrome.
Mitochondrial Function and Metabolic Pathways
Investigations into mitochondrial function and metabolic pathways contribute to the comprehension of NARP syndrome's pathogenesis and the identification of novel therapeutic targets.
Novel Diagnostic Methods of NARP Syndrome
The primary method for diagnosing NARP syndrome is achieved through detecting mutations in the MT-ATP6 gene. In addition, various methods such as mutation scanning, targeted variant analysis, sequence analysis of the entire coding region, sequence analysis of selected exons, and deletion or duplication analysis are employed for molecular genetic testing.
Novel Therapies of NARP Syndrome
The current treatment options for NARP syndrome are limited, but symptomatic therapies have shown efficacy. There are several innovative therapeutic approaches currently being developed.
Symptomatic Treatment
Management of NARP syndrome focuses on alleviating symptoms, such as ophthalmologic treatment for vision problems and psychotherapeutic support for cognitive disorders.
Gene Therapy and Cell Therapy
The researchers are investigating the potential of gene editing and cell replacement therapies to restore mitochondrial function and alleviate associated symptoms.
Our Services
Protheragen offers a comprehensive range of preclinical services for NARP syndrome, utilizing cutting-edge preclinical research technology and leveraging our world-leading expertise. Our dedicated team is committed to advancing state-of-the-art diagnostics and therapies in this field.
Our Advantages
If you have a keen interest in our research and services, please do not hesitate to contact us. Our dedicated team is fully committed to providing comprehensive support and assistance, enabling you to effectively tackle this challenge and collaboratively shape a more promising future.
Reference
- 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.
