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Leigh Syndrome (LS)

Leigh syndrome (LS) is an inherited neurometabolic disorder affecting the central nervous system. Our company boasts a team of exceptionally talented researchers and scientists who possess vast expertise in the field of LS research. We are dedicated to developing breakthrough diagnostic tools and therapeutic drugs for LS. As a dependable and trusted partner, we offer a comprehensive suite of tailored services aimed at expediting your scientific research endeavors.

Introduction to LS

LS, also known as subacute necrotizing encephalomyelopathy, is a rare genetic neurometabolic disorder characterized by the degeneration of the central nervous system. It primarily affects the brain, spinal cord, and optic nerve, leading to a wide range of neurological symptoms. LS is very serious, characterized by rapid onset and high mortality. Newborns usually develop the disease in the first year of life and die from respiratory failure within two to three years. The incidence rate of Leigh syndrome is 1/40,000 newborns.

Pathogenesis of LS

Multiple gene mutations in mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are associated with the occurrence of LS. Of these, most cases have mutations in nuclear DNA, and about 20% have mutations in mitochondrial DNA. LS-related genes primarily contribute to mitochondrial energy production. Gene mutations disrupt mitochondrial energy production, leading to toxic metabolite buildup, oxidative stress, and neuronal degeneration. Additionally, the disruption of energy metabolism affects various organs and tissues, contributing to the multisystemic nature of LS.

Fig.1 Pathogenesis and main symptoms of LS.Fig.1 Pathogenesis and main symptoms of LS. (Bakare, Ajibola B., et al. 2021)

Diagnostics Development of LS

The diagnosis of LS mainly involves genetic testing and neuroimaging examinations.

Genetic Testing

Genetic Testing

Genetic testing has emerged as a highly accurate and efficient diagnostic method for LS, enabling the identification of specific mutations in nuclear or mitochondrial DNA that are directly associated with the disorder.

Neuroimaging Examination

Neuroimaging Examination

Advanced imaging techniques, such as magnetic resonance imaging (MRI) and computed tomography (CT), can reflect abnormalities in brain structure and function. These imaging modalities can display characteristic lesions in specific brain regions, such as the basal ganglia and brainstem, further aiding the diagnosis of LS.

Therapeutics Development of LS

  • Targets of LS Therapy Development
Target Name Description
Mitochondrial Function Recovery Pathways LS is often caused by defects in mitochondrial function, leading to impaired energy production. Therapies aim to improve mitochondrial function and enhance energy production within cells. This can be achieved through the use of supplements such as coenzyme Q10 (CoQ10) or other mitochondrial-targeted antioxidants.
Targeted Gene Mutations Some forms of LS are caused by genetic mutations (such as the SLC19A3) that affect thiamine metabolism or transport. Thiamine supplementation may be prescribed to address thiamine-responsive forms of LS, which are caused by specific genetic mutations.
  • Types of LS Therapy Development

Mitochondrial Therapy Development

Therapies targeting mitochondria aim to enhance mitochondrial function and mitigate the detrimental effects of LS. These include mitochondrial replacement therapy, mitochondrial-targeted antioxidants, and strategies to improve mitochondrial biogenesis and dynamics.

Gene Therapy Development

Gene therapy offers great potential for LS therapeutics. Approaches such as gene replacement, gene editing, and modulation of gene expression are being explored to correct genetic defects associated with LS and restore normal cellular function.

Our Services

Our company has established a comprehensive platform for rare disease diagnostics and therapy development, encompassing small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. Through our dedicated platforms, we are fully devoted to advancing the development of innovative diagnostic tools and therapeutics for LS.

Recognizing the significance of animal disease models in the development of therapeutics for LS, we offer our expertise in establishing the Ndufs4 KO mouse model and FOXRED1 blockage mouse model. These models serve as invaluable tools to facilitate safety evaluation and pharmacokinetics study of LS drug candidates.

If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.


  • Bakare, Ajibola B., Edward J. Lesnefsky, and Shilpa Iyer. "Leigh syndrome: a tale of two genomes." Frontiers in Physiology 12 (2021): 693734.
  • Jain, Isha H., et al. "Leigh syndrome mouse model can be rescued by interventions that normalize brain hyperoxia, but not HIF activation." Cell metabolism 30.4 (2019): 824-832.
  • Salama, Mohamed, et al. "FOXRED1 silencing in mice: a possible animal model for Leigh syndrome." Metabolic brain disease 34 (2019): 367-372.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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