MT-TK

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mitochondrially encoded tRNA lysine
Identifiers
SymbolMT-TK
Alt. symbolsMERRF, MTTK
Chr. MT [1]

Mitochondrially encoded tRNA lysine also known as MT-TK is a transfer RNA which in humans is encoded by the mitochondrial MT-TK gene.[1]

Structure

The MT-TK gene is located on the

tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]

Function

MT-TK is a small 70 nucleotide

translation
.

Clinical significance

Mutations in MT-TK can result in multiple mitochondrial deficiencies and associated disorders.

Myoclonic epilepsy with ragged-red fibers (MERRF)

Mutations in the MT-TK gene are associated with myoclonic epilepsy and ragged-red fiber disease (

mitochondria.[7] A family of mutations 8344A>G and 16182A>C in the MT-TK gene has been found with MERRF syndrome. Another family with the syndrome exhibited mutations of 3243A>G and 16428G>A.[8]

MERRF/MELAS overlap syndrome

MELAS syndrome may also be accompanied by another mitochondrial disorder called

mitochondria and result in symptoms of such syndromes.[7] The single nucleotide substitution 8356T>C has been found to cause the syndrome.[10]

Maternally inherited diabetes and deafness (MIDD)

A mutation in the MT-TK gene has been found in a small number of people with maternally inherited diabetes and deafness (MIDD). The disorder is characterized by

beta cells do not release enough insulin to regulate blood sugar effectively. Researchers have not determined how mutations lead to hearing loss or the other features of MIDD.[7] The single nucleotide substitution 8296A>G has been found to cause the syndrome.[11]

Leigh syndrome

The 8344A>G mutation in the MT-TK gene may also result in

infancy or early childhood. Additional symptoms include heart problems, kidney problems, and breathing difficulties. The cause of the disease has not been identified.[7]

Cardiomyopathy

The 8363G>A mutation in the MT-TK gene may also cause hypertrophic

encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy.[12]

Complex IV Deficiency

MT-TK mutations have been associated with complex IV deficiency of the

encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.[13] A patient with a 8313G>A mutation in the MT-TK gene exhibited symptoms of the deficiency accompanied by bilateral ptosis.[14] Other variants also include 8328G>A[15] and 8344G>A.[16]

References

  1. S2CID 4355527
    .
  2. ^ "MT-TK mitochondrially encoded tRNA lysine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
  3. ^ "tRNA / transfer RNA". Learn Science at Scitable.
  4. ^
    S2CID 6101099
    .
  5. PMID 2124116
    .
  6. ^ "Myoclonic epilepsy with ragged-red fibers". Genetics Home Reference. U.S. National Library of Medicine.Public Domain This article incorporates text from this source, which is in the public domain.
  7. ^ a b c d e Reference, Genetics Home. "MT-TK gene". Genetics Home Reference.Public Domain This article incorporates text from this source, which is in the public domain.
  8. PMID 17236134
    .
  9. S2CID 9418186
    .
  10. PMID 1361099
    .
  11. PMID 9571188
    .
  12. PMID 8651277
    .
  13. ^ Reference, Genetics Home. "Cytochrome c oxidase deficiency". Genetics Home Reference.Public Domain This article incorporates text from this source, which is in the public domain.
  14. S2CID 5872401
    .
  15. S2CID 29433711
    .
  16. PMID 17275787
    .

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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