Leigh syndrome is an uncommon and devastating mitochondrial disorder primarily impacting the central nervous system. Protheragen is committed to providing specialized research services tailored to address the intricate challenges presented by Leigh syndrome.
Introduction to Leigh Syndrome
Leigh syndrome, also known as classical Leigh syndrome, Leigh necrotizing encephalopathy, Leigh's disease, or necrotizing encephalomyelopathy of Leigh's (SNE), is a severe neurological disorder characterized by progressive degeneration of the central nervous system. It commonly arises from mutations in nuclear or mitochondrial DNA that affect the function of mitochondrial respiratory chain complexes, resulting in impaired energy production and neuronal dysfunction. The following mutations are the most frequently observed.
Fig.1 Mutations in mitochondrial genes causing Leigh and Leigh-like syndrome. (Schubert Baldo, M., et al., 2020)
| Biochemical defect |
Associated nuclear genes |
| Complex I Deficiency |
NDUFA1, NDUFA2, NDUFA9, NDUFA10, NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFB8, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2 |
| Complex II Deficiency |
SDHA |
| Complex III Deficiency |
UQCRQ |
| Complex IV Deficiency |
NDUFA4, COX8A |
| Assembly factors deficiency |
| Complex I |
NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, C17ORF89, FOXRED1, NUBPL |
| Complex II |
SDHAF1 |
| Complex III |
BCS1L, TTC19 |
| Complex IV |
SURF1, COX10, COX15, SCO2, PET100 |
| Cofactors and biosynthesis |
| Pyruvate Dehydrogenase Complex |
PDHA1, PDHX, PDHB, DLAT, DLD |
| Biotinidase Deficiency |
BTD |
| Thiamine Deficiency |
TPK1, SLC19A3 |
| Lipoic acid |
LIPT1, LIAS, BOLA3 |
| Amino acid |
HIBCH, ECHS1 |
| Coenzyme Q10 Deficiency |
PDSS2, COQ9 |
Table.1 Nuclear genes causing Leigh and Leigh-like syndrome. (Schubert Baldo, M., et al., 2020)
Research Progress of Leigh Syndrome
The research on Leigh syndrome has been primarily focused on elucidating the pathogenesis, identifying novel disease-causing genetic mutations, and devising therapeutic interventions. Additionally, certain investigations have aimed to identify pharmaceutical agents or treatment strategies that modulate mitochondrial function to ameliorate patient symptoms and enhance survival.
Novel Diagnostic Methods of Leigh Syndrome
Advances in gene sequencing technology have significantly enhanced the accuracy and reliability of diagnosing Leigh syndrome and other mitochondrial diseases. The utilization of high-throughput sequencing technology enables the identification of disease-causing genetic mutations in patients, thereby facilitating personalized treatment options.
Novel Therapies of Leigh Syndrome
The current research focuses on exploring novel therapeutic approaches for Leigh Syndrome.
- Mitochondrial Replacement Therapy (MRT)
The transplantation of healthy mitochondria into a patient's oocytes to substitute for the patient's defective mitochondria.
- Drug Treatment
The exploration of pharmacological agents that can enhance mitochondrial function or mitigate its impairment, such as antioxidants and energy supplements.
- Gene Therapy
Aims to address Leigh Syndrome through gene repair or replacement targeting damaged genes.
Our Services
As a leading preclinical contract research organization (CRO) specializing in mitochondrial diseases, Protheragen is dedicated to delivering exceptional research services for Leigh syndrome, ensuring the highest quality for our esteemed clients. Our team comprises seasoned scientists and researchers with extensive expertise and profound knowledge in the field of mitochondrial disease research.
The utilization of advanced genomic technologies enables us to identify genetic biomarkers associated with Leigh syndrome, thereby facilitating precise genetic testing and risk assessment.
We employ advanced cell-based and animal models to conduct fundamental research and evaluate the efficacy of LS drugs. Our animal model studies encompass behavioral, pathological, metabolic, and other dimensions, thereby providing crucial support for the clinical translation of Leigh syndrome therapy.
We specialize in the development of gene therapy strategies focused on targeting Leigh syndrome, to rectify underlying genetic abnormalities and reinstate mitochondrial functionality.
Our Advantages
If you are interested in our research services on Leigh syndrome or have any inquiries, please do not hesitate to contact us. Protheragen will be delighted to provide support and assistance in advancing the research and development of treatments for Leigh syndrome.
Reference
- Schubert Baldo, M., & Vilarinho, L. (2020). Molecular basis of Leigh syndrome: a current look. Orphanet journal of rare diseases, 15(1), 31.
