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Journals / Kafkas Üniversitesi Veteriner Fakültesi Dergisi / 2017 / Cilt: 23 - Sayı: 2

Türkiye Arap Atı Popülasyonunda LFS ve PSSM-I Hastalıklarının Moleküler Taraması

Molecular Screening of LFS and PSSM-I Diseases in Arabian Horse Population in Turkey

NÜKET BİLGEN
BENGİ ÇINAR KUL
Okan ERTUĞRUL
Ferudun ERZURUM
Pages
339–342
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Diseases related mutations were not detected in the sampled Arabian horse population

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Polysaccharide Storage Myopathy (PSSM) and Lavender Foal Syndrome (LFS) are inherited diseases in horse.
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Key Findings & Data:PSSM-I, a point mutation in Glycogen Synthase-1 gen (GYS1) causes increased activation of the enzyme and abnormal polysaccharides formation.
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Conclusion & Impact:Diseases related mutations were not detected in the sampled Arabian horse population
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Polysaccharide Storage Myopathy (PSSM) and Lavender Foal Syndrome (LFS) are inherited diseases in horse. PSSM-I, a point mutation in Glycogen Synthase-1 gen (GYS1) causes increased activation of the enzyme and abnormal polysaccharides formation. LFS caused by one nucleotide deletion in Myosin-Va (MYO5A) leads frame shift mutation and premature termination of the protein. In the study, a total of 239 blood samples, taken from Anadolu (n=70), Karacabey (n=70) and Sultansuyu (n=99) stud farms were screened. Diseases related mutations were not detected in the sampled Arabian horse population

Özet

Atların "Polisakkarit Depolama Hastalığı" (Polisaccarite Storage Myopathy, PSSM) ve "Lavanta Renkli Tay Sendromu" (Lavander Foal Syndrome, LFS) aktarılan kalıtsal hastalıklardır. PSSM-I'de, Glikojen Sentaz-1 (GYS1) geninde meydana gelen bir nokta mutasyonuna bağlı olarak enzim etkinliğinde artış şekillenmekte ve anormal polisakkaritler oluşmaktadır. Lavanta renkli tay hastalığında ise Miyozin-Va (MYO5A) geninde çerçeve kayması mutasyonuna neden olan bir bazlık delesyon sonucunda proteinde prematüre sonlanma şekillenmektedir. Sunulan araştırmada, Anadolu (n=70), Karacabey (n=70) ve Sultansuyu (n=99) Tarım İşletmeleri'nde yetiştirilen damızlık Arap atlarından temin edilmiş 239 adet kan örneği kullanılmıştır. İncelenen popülasyonda LFS ve PSSM hastalıklarıyla ilişkilendirilen mutasyonlara rastlanmamıştır

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Cite This Article

BİLGEN, N., KUL, B. Ç., ERTUĞRUL, O., ERZURUM, F. (2017). Türkiye Arap Atı Popülasyonunda LFS ve PSSM-I Hastalıklarının Moleküler Taraması. Kafkas Üniversitesi Veteriner Fakültesi Dergisi, Cilt: 23 - Sayı: 2, 339–342. https://ajindex.com/articles/272370

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