: Clinical features and biochemical and DNA abnormalities.
As a component of complex IV, NDUFA4 could prove to be a useful target in discerning the genetic nature underlying diseases caused by mitochondrial energy deficit, such as Leigh syndrome
and similar COX deficits.
Mitochondrial DNA haplogroup Y is associated to Leigh syndrome
in Chinese population.
The patient was admitted to the Pediatric Neurology Department for further examination based on the suspicion of Moyamoya disease associated with Leigh syndrome
. Total cholesterol, triglyceride, lipid electrophoresis, creatin phosphokinase levels were measured during laboratory tests carried out for stroke etiology and the results were determined to be normal.
due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations.
The mother in the case carries Leigh syndrome
, a (https://rarediseases.org/rare-diseases/leigh-syndrome/) rare neurological disease that affects the central nervous system and leads to neurological deterioration, in her mitochondrial (small cells) DNA but does not suffer from the disease.
They had learned of the mum's disorder after they had a daughter in 2005 who was born with Leigh syndrome
and lived just eight months.
Though the authors of the 2013 paper also performed studies with cells of an infant with Leigh syndrome
, they did not demonstrate that diploid pluripotent stem cells could be derived from these cells.
(6-11) For example, a DNA sample was recently received from a one-year-old female with clinical symptoms suggestive of Leigh syndrome
, a mitochondria-associated disorder, which includes difficulty swallowing, motor delay, and involuntary eye movement.
Eventually, after 10 months, she was diagnosed with Leigh Syndrome
, a neurological condition which causes scarring on the brain tissue.
According to the company, the objective of its NVP015 programme is to develop a treatment option for patients with genetic mitochondrial diseases, such as Leigh Syndrome
and MELAS, when acute cellular energy support is needed, such as during an ordinary infection.