Alpers disease is a severe mitochondrial disease that manifests in childhood and is caused by bi-allelic variants in the POLG gene, which encodes for the mitochondrial DNA (mtDNA) polymerase. This leads to the depletion of mtDNA. As a preclinical contract research organization (CRO) company specializing in mitochondrial diseases, Protheragen is dedicated to delivering high-quality research services that contribute to the treatment and comprehension of Alpers disease.
Introduction to Alpers Disease
Alpers disease, also referred to as Alpers' syndrome or Alpers Progressive Infantile Poliodystrophy, is an uncommon inherited mitochondrial disorder primarily caused by bi-allelic pathogenic variants in the POLG gene， encoding the catalytic subunit of mitochondrial DNA polymerase gamma (Pol γ). This genetic defect leads to inefficient replication of mitochondrial DNA, the depletion of mtDNA causes consequent cellular dysfunction, mitochondrial respiratory chain impairments, and apoptosis in the brain and liver. MtDNA depletion results in decreased activities of mitochondrial oxidative phosphorylation (OXPHOS) complexes and impaired generation of adenosine triphosphate (ATP), which leads to severe neural dysfunction and neurodegeneration. The characteristic symptoms encompass refractory epilepsy, cognitive decline, and dementia, as well as liver disease, distinguishing it from other mitochondrial disorders.
Fig.1 Areas of distinguished variants in POLG mutation in Alpers' syndrome. (Li, H., et al., 2021)
Research Progress of Alpers Disease
The primary focus of research on Alpers disease lies in comprehending its genetics, pathophysiology, and clinical manifestations. Scientists are devoted to exploring novel therapeutic approaches, encscle Biopsy Serviompassing gene therapy, mitochondrial replacement therapy, and drug therapy.
Novel Diagnostic Methods of Alpers Disease
In terms of diagnostic techniques, advancements in genetic sequencing and brain imaging methodologies have made early detection more feasible, thereby enhancing treatment outcomes.
Novel Therapies of Alpers Disease
While there are currently no specific treatments available, several innovative therapeutic approaches are currently being investigated. For instance, gene editing technologies hold promise in repairing or rectifying mutations present in mitochondrial DNA. Moreover, mitochondrial replacement therapy presents a potential treatment modality involving the substitution of damaged mitochondria with healthy counterparts.
Our Services
Protheragen specializes in providing comprehensive pre-clinical research services for Alpers disease. Our team of expert scientists and researchers is dedicated to advancing the understanding and therapeutic options for this disease.
Mechanistic Studies of Alpers Disease
The following services are offered in the field of Alpers disease mechanism research.
Our Advantages
At Protheragen, our unwavering commitment lies in advancing the comprehension and developing therapies for Alpers disease. Our team of seasoned experts is adept at delivering tailored research solutions to cater to your specific requirements. Feel free to contact us to explore how our comprehensive Alpers disease research services can bolster your research and drug development endeavors.
Reference
- Li, H.; et al. (2021). Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes. Frontiers in pharmacology, 12, 669516.
