Home > A. Molecular pathology > MTTL1

MTTL1

MIM.590050

Thursday 12 January 2006

Mitochondrial tRNA mutations impair mitochondrial protein synthesis, thereby causing dysfunction of the mitochondrial respiratory chain.

Pathology

- mitochondrial DNA mutations of the MTTL1 gene in

  • MELAS syndrome
  • MERRF syndrome (myoclonus epilepsy and ragged-red fibers) with optic neuropathy, retinopathy, and diabetes
  • Kearns-Sayre syndrome (MIM.530000)
  • mitochondrial cardiomyopathy +/- mitochondrial myopathy
  • mitochondrial encephalopathy
  • progressive external ophtalmoplegia, proximal myopathy and sudden death
  • skeletal myopathy responsive to riboflavin
  • sudden infant death syndrome (SIDS)
  • neuropsychiatric disorder and early-onset cataract
  • myelodysplastic syndrome (MDS)
    • Ultrastructural abnormalities seen in mitochondria of bone marrow cells of patients with myelodysplastic syndrome (MDS), such as pathologic iron accumulation in the mitochondria of erythroblasts, suggest that mitochondrial dysfunction may contribute to the pathophysiology of MDS.
    • Dysfunction of the mitochondrial respiratory chain can cause ineffective hematopoiesis.