Leigh Syndrome is a severe neurological disorder appearing in the first years of life. This disease affects 1 in 40,000 newborns and is characterized by a progressive loss of mental and movement abilities. Leigh Syndrome is caused by patches of damaged tissues (lesions) that develop in the brains of those affected. These lesions affect the myelin that coats nerves, which in turn reduces the ability of these nerves to activate muscles used for movement.
Leigh Syndrome Poster
- Genetically, Leigh Syndrome can be caused by one of 75+ genes. Nearly 20% of these genes are located in mitochondrial DNA that is associated with energy production. The disruption of Complex I of the Electron Transport Chain is the most common cause of Leigh Syndrome. Leigh Syndrome can be diagnosed by genetic testing, or by MRI detection of lesions in the brain.
Recent research on Leigh Syndrome
Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome
- (March 2018) This article describes the anesthetic management of a young boy with Leigh Syndrome. Because aspiration and breathing is generally more difficult in Leigh Syndrome patients, the authors of this article present a solution to managing the anesthetics during surgery.
Preventing Mitochondrial Disease: A Path Forward
- (March 2018) This article describes a new method—the first of its kind—of preventing the heritable transmission of Leigh Syndrome, performed by a U.S.-led team in Mexico. While it describes the science behind preventing this transmission by replacing the mutation-bearing mitochondria with donated mutation-free counterparts, it also delves into the morals of preventing gravely ill children’s afflictions if possible.
Perioperative Risk Assessment for Successful Kidney Transplant in Leigh Syndrome: as care report
- (February 2018) The above article describes a young man with end stage renal disease, and upon further investigation it was revealed he had a mutation (m.13513G >) that is consistent with Leigh Syndrome. His mitochondrial disease was stabilized, and he underwent kidney replacement after extensive perioperative risk assessment. Because of the perioperative assessment, it was successful and has excellent graft function three and half years post-transplant. This was the first known successful deceased donor kidney transplant to a patient with known LS.
Phenotype-Genotype Correlations in Leigh Syndrome: New Insights from a Multicentre Study of 96 Patients
- (January 2018) This article is one of the first to explore the phenotype-genotype correlations in Leigh Syndrome. Researchers found that patients with mutations in MT-ND and NDUF genes with Complex I deficiencies shared common phenotypic features. Researchers also found that patients with the m.8993T>G mutation in MT-ATP6 gene had more severe clinical manifestations and poorer disease outcomes than patients with the m.8993T>C mutation. This paper gives light to the relationship between phenotype and genotype within Leigh Syndrome.
Mitochondrial DNA-Associated Leigh Syndrome and NARP
- (September 2017) This article—first published in 2003, and recently updated in September of 2017—describes various aspects of Leigh Syndrome and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP), including clinical characteristics, diagnosis, management and genetic counseling. This article gives good background as to what each of the disorders entail.
Management of Leigh Syndrome: Current Status and New Insights
- (September 2017) This article gives recent status and new insights to the management of Leigh Syndrome, as of September 2017. This paper acknowledges many novel therapies being tested in pre-clinical studies, as well as the current treatment/management options and future therapeutic strategies for Leigh Syndrome.
Direct Effects of Mitochondrial Dysfunction on Poor Bone Health in Leigh Syndrome
- (November 2017) This article describes a study that isolated stem cells from human deciduous teeth (SHED) and assessed the effects of decreased mitochondrial function on poor bone health. Comparing Leigh Syndrome SHED to control SHED, intracellular and mitochondrial calcium were much lower, indicating that decreased osteoclast and osteoblast function contributes to poor bone health in mitochondrial disease patients—like Leigh Syndrome.
For a complete list of articles about Leigh Syndrome, visit PubMed