Science Lab




Etilogy and diagnosis

The diagnosis of the syndrome is directed by imaging of the brain, showing a specific topology of lesions in the brainstem and basal ganglia, often in conjunction with leukodystrophy and cerebral
atrophy. Elevated levels of lactate in the cerebrospinal fluid and inthe blood have also been observed. The etiological diagnosis is based on genetic testing. Dozens of mutations are known to cause Leigh syndrome. Most of them are located in the nuclear genome. Only between10 and 30% are mitochondrial mutations, the most common of which are the 8993T> G or 8993T> C mutations in the MT-ATP6 gene. Whether themutation is in the nuclear or mitochondrial genome, disruption of any of the complexes of the respiratory chain leads to a significant decrease in the production of adenosine triphosphate (ATP).

Why is ATP important?

Adenosine triphosphate is an organic substance that provides the energy needed to carry out many processes in living cells, such as muscle contraction, nerve impulse propagation, condensate dissolution, and chemical synthesis. ATP is found in all known life forms and is often called an energy currency. Its deficiency disrupts a number of metabolic processes in the body and leads to the death of the most energy-intensive cells, such as nerve and muscle ones.

Treatment and prognosis

Leigh syndrome involves a short lifespan, usually three to five years. However, some people manage to significantly outlive this age. Supporting therapy focuses on the specific symptoms of each person. Various vitamins, enzymes and antioxidants are used to slow theprogression of the disease. There is still no cure for this disease, but there is already hope. A team of scientists from UT Southwestern Medical Center began developing gene therapy for the mutation in the MT-ATP6 gene.  We need YOUR help to make this research into a reality.

Watch this short video to learn more about ATP6 research