Vikipediya azad ensiklopediya HFE H63D mutasiyası 63 cü yerdə yerləşən amin turşularına aid edilən histidinin Asparagin

Vikipediya azad ensiklopediya HFE H63D mutasiyasi 63 cu yerde yerlesen amin tursularina aid edilen histidinin Asparagin tursusu ile evezlenmesine sebeb olur ve HFE zulalinin konfiqurasiyasinin pozulmasina getirib cixarir Bu zulal transferrin 1 reseptoru ile birlesmek qabiliyyetine malik deyildir Heteroziqot mutasiya dasiyicilarinin 15 ni Rusiya ve Merkezi Avropa ehalisi teskil edir HFE genindeki homoziqot H63D mutasiyalari bezen hemokromatoza sebeb olur Hemoxromotoz ozu ise hipotransferrinemiya qaraciyer disfunksiyasi sumuk ve oynaq problemleri diabet urek xesteliyi hormon balanssizliqlari porfiriya tarda sonsuzluq insult neyrodegenerativ xestelikler beyin zedelenmesi bezi xerceng novleri venoz ve periferik arteriya ile elaqelendirilir Mutasiyanin ustunlukleri span H63D mutasiyasi demir catismazligina musbet tesir gosterir kisilerde ise daha yuksek hemoqlobin konsentrasiyasi ile neticelenir Homoziqot dasiyicilarinin esas elameti transferrin saturasiyasinda artisin olmasidir Hemokromatozlu kisi ve qadinlarda boyun uzunlugu bir nece santimetr normadan artiq olur HFE H67D sicanlarda H63D ortoloqu insanlarda boyuk kutleye malikdirler Beyinde demirin yigilmasi span H63D homoziqotlarinda en onemli risklerinden biri tesirlenmis huceyrelerde oksidlesme proseslerine xroniki oksidlesdirici stress sebeb olan ve neticede ciddi sekilde pozulmus neyrotransmitter ile huceyre olumune beyin toxumasinin capiqlanmasi getirib cixaran demir yigilmasi sebebinden beyin zedelenmesidir Mualicesi olmayan proseslere huceyrede demirin heddinden artiq artmasini oksidlesdirici stressi serbest radikal aktivlik beyinde qlutamat balansinin pozulmasini tau zulallari ve alfa sinuklein seviyyelerinin anormallasmasi neticesinde emele gelen demans ve Parkinson xesteliklerini misal gostermek olar H63D ucun homoziqot olan xestelerde normal HFE genleri ve ya heteroziqot H63D mutasiyasi olan sexslerle muqayisede daha erken koqnitiv pozulma ve demensiyanin daha erken baslama riski daha yuksekdir Rusiyada Altsheymer xesteliyinden eziyyet ceken 222 xestede H63D allelinin populyasiya numunelerinin ve yuzillik numunelerinin muqayiseleri bu tezliyin artmis oldugunu gosterir 13 1 ve 12 oldugu hallarda 18 5 e qeder yukselmisdir Urekde demirin yigilmasi span Homoziqot H63D mutasiyasi olan insanlarda esasen urek xesteliklerine kardiomiopatiyaya ve kalsium kanali pozgunluqlarinin elametlerine rast gelinir Diabet span Diabetli xestelerde H63D tezliyinin artmasi musahide edilmisdir Bele ki bu tezlik 13 1 e nisbeten 18 2 olmusdur Bundan elave agir nefropatiya proliferativ retinopatiya agir neyropatiya angina insult ile musayiet olunan diabet agirlasmalari olan xestelerde H63D H63D genotipinin dasiyicilarinin sayi 3 defe cox olmusdur Qaraciyer xestelikleri span Homoziqot HFE H63D mutasiyasi qaraciyerde piylenmeni qaraciyer disfunksiyasini metabolik sindromun inkisaf riskini artirir Evvelceden qaraciyer sirrozu ve ya alkoqolun sebeb oldugu qaraciyer zedelenmesinden eziyyet ceken xestelerde ise daha da inkisaf ederek qaraciyer xercengini emele getirir Istinadlar span Mutacii c282y i h63d i ih associaciya s razvitiem nasledstvennogo gemohromatoza v russkoj populyacii A Yu Efimenko E S Potehina G A Shipulin i dr Sankt Peterburgskie nauchnye chteniya Materialy VI nauchno prakticheskoj konferencii s mezhdunarodnym uchastiem 2004 S 214 1 Arxiv sureti 14 iyun 2017 tarixinden Wayback Machine saytinda P Nielsen R Fischer Roland R Engelhardt et al Neue Moeglichkeiten in der Diagnose der hereditaeren Haemochromatose In Deutsches Arzteblatt Bd 95 Nr 46 1998 Arzteblatt Arxiv sureti 29 dekabr 2019 tarixinden Wayback Machine saytinda Castiella Urreta Zapata et al H63 H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome Eur J Intern Med 2019 Nov 30 pii S0953 6205 19 30423 6 doi 10 1016 j ejim 2019 11 021 Raszeja Wyszomirska J Kurzawski G Zawada I Suchy J Lubinski J Milkiewicz P HFE gene mutations in patients with 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