Keçi Genetik Kusuru: Mukopolisakkaridoz Tip III D (MPS III D)

Öz

Lizozomlar, makromoleküllerin parçalanmasından sorumlu yaklaşık 50 farklı hidrolitik enzim içeren önemli hücre içi organellerdir. Bu enzimleri kodlayan genlerdeki mutasyonlar, lizozomal depo hastalıkları adı verilen genetik bozukluklara neden olur. Mukopolisakkaridoz tip III D (MPS III D) otozomal resesif kalıtım gösteren lizozomal depo hastalıklarından birisidir. MPS III D, heparan sülfatın yıkılma sürecinde yer alan N-asetilglukozamin-6-sulfataz (G6S/GNS) enziminin eksikliğinde ortaya çıkar. Keçilerde MPS III D tanımlanmış ve karakterize edilmiştir. Keçilerde MPS III D, G6S enzim eksikliği nonsense bir mutasyon sonucudur. Keçilerde G6S enzim eksikliği, birincil olarak katabolize olmamamış heparan sülfatın lizozomlarda birikmesine ve merkezi sinir sistemi ve somatik hücrelerde sitoplazmik vakuolasyona neden olur. Bu hastalığa sahip keçilerde görülen semptomlar ve şiddetleri oldukça değişken olmakla birlikte ana semptomlar motor gelişiminde ve büyümede gerilik ve erken ölümdür. Bu derleme keçi MPS III D genetik kusuruna genel bir bakış sunmaktadır.

Anahtar Kelimeler

• genetik kusur
• lizozomal depo hastalıkları
• keçi

Goat’s Genetic Disorder: Mucoplysaccharidosis III D (MPS III D)

Öz

Lysosomes are important intracellular organelles that contain about 50 different hydrolytic enzymes responsible for degragation of macromolecules. Mutations in the genes that encode these enzymes are caused genetic disorders called lysosomal storage diseases. Mucoplysaccharidosis III D (MPS III D) is one of the autosomal recessive lysosomal storage diseases. MPS III D is due to the deficiency of the enzyme N-acetylglucosamine-6-sulfatase (G6S/GNS), which is involved in step-wise the degradation of heparan sulfate. MPS III D has been identified and characterized in goats. In goat MPS IIID, the G6S enzyme deficiency is result of a nonsense mutation. Deficiency of G6S enzyme activity in goat leads to primary accumulation of uncatabolized heparan sülfat in lysosomes and marked cytoplasmic vacuolation in the central nervous system and somatic tissues. Although the symptoms and severity of symptoms in goats with this disorder are highly variable, the main symptoms are delayed motor development, growth retardation and early death. This review gives on overview on goats MPS IIID genetic disorder.

Anahtar Kelimeler

• genetic disorder
• lysosomal storage diseases
• goat

Kaynakça

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