TheMT-TP gene is located on thep arm of the non-nuclearmitochondrial DNA at position 12 and it spans 68 base pairs.[2] The structure of atRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafedclover.[3]
MT-TP is a small 68 nucleotideRNA (human mitochondrial map position 15956-16023) that transfers the amino acidproline to a growingpolypeptide chain at theribosome site ofprotein synthesis duringtranslation.MT-TP is responsible for coding themicrosomal triglyceride transfer protein, which is required for the synthesis ofbeta-lipoproteins in the liver and intestine. Beta-lipoproteins are essential in fat,cholesterol, and fat-soluble vitamin transport from theintestine to the bloodstream for absorption.[4]
Mutations inMT-TP have been associated withabetalipoproteinemia. Abetalipoproteinemia is an inherited disorder characterized by an impaired absorption of fats and certain vitamins from the diet. Mutations inMT-TP cause an impairedmicrosomal triglyceride transfer protein and lead to reduced or absent beta-lipoprotein. The dysfunction of the microsomal triglyceride transfer protein then results in insufficient levels of fats, cholesterol, and vitamins, which are necessary for growth and development.[4] Therefore, clinical manifestations of abetalipoproteinemia include impairedweight gain and growth,failure to thrive,diarrhea, andsteatorrhea. Mutations of GLY865TER,[5] SER590ILE,[6] ASN780TYR,[7] ARG540HIS,[8] IVS9AS,[9] and ARG215TER[10] of theMT-TP gene have been found in patients with the disease.
^Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome".Nature.290 (5806):457–65.Bibcode:1981Natur.290..457A.doi:10.1038/290457a0.PMID7219534.S2CID4355527.
^Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient".Molecular Genetics and Metabolism.90 (4):453–7.doi:10.1016/j.ymgme.2006.12.010.PMID17275380.
^Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ (September 1993). "Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia".Nature.365 (6441):65–9.Bibcode:1993Natur.365...65S.doi:10.1038/365065a0.PMID8361539.S2CID4334532.
