Leigh syndrome

From Biology-Online Dictionary | Biology-Online Dictionary

Definition

noun

A type of mitochondrial myopathy characterized by ataxia, brain abnormality, seizures, hearing loss, muscle weakness


Supplement

Leigh syndrome is a type of mitochondrial myopathy. A mitochondrial myopathy is a type of myopathy associated with mitochondrial dysfunction. One of the major distinctions of this condition is the inability of the muscle to perform properly. In mitochondrial myopathies, the underlying cause is a dysfunctional mitochondrion due to a pathological mutation in the mitochondrial DNA. Many individuals with this condition have reduced (or lack) thiamine triphosphate. The probable reason for this deficiency is the blockage of the enzyme thiamine-diphosphate kinase. Nevertheless, Leigh syndrome may be caused by mutations involving various genes in the mitochondrion (e.g. MT-ATP6) and in the nucleus (e.g. SURF1 and certain COX assembly factors). Most of the cases of Leigh syndrome are caused by nuclear DNA mutations and the genes involved are mostly those that are associated with oxidative phosphorylation.

Leigh syndrome is characterized by the following symptoms: developmental delays, muscle weakness, brain abnormalities, seizures, ataxia, impaired vision, and hearing impairment.

The condition is named after Archibald Denis Leigh, a British neuropsychiatrist that first described it (in 1951).


Synonym(s):

  • subacute necrotizing encephalopathy (SNE)
  • necrotizing encephalopathy infantile subacute of Leigh;
  • Leigh's necrotizing encephalopathy
  • Leigh's disease
  • infantile subacute necrotizing encephalopathy
  • Leigh disease

See also: