Biyotinidaz eksikliğinin plazma kolinesteraz aktivitesi üzerindeki etkilerinin araştırılması

Abstract

Amaç: Biotinidaz eksikliği (BD), vücudun çeşitli metabolik süreçlerde yer alan karboksilaz enzimleri için kritik bir koenzim olan biotini geri dönüştürme yeteneğini bozan nadir bir otozomal resesif metabolik bozukluktur. Bu çalışma, yetersiz biotin geri dönüşümünün neden olduğu metabolik bozulmaların kolinesteraz fonksiyonunda değişikliklere yol açabileceği hipotezini test ederek, biotinidaz eksikliğinin plazmadaki kolinesteraz aktivitesi üzerindeki etkilerini değerlendirmeyi amaçlamaktadır. Gereç ve yöntem: Plazma örnekleri, yabanıl tip (n=12), heterozigot (n=30), homozigot (n=19) ve bileşik heterozigot (n=12) olarak kategorize edilen 73 bireyden toplandı. Kolinesteraz aktivitesi kolorimetrik bir yöntem kullanılarak ölçüldü. Bulgular: Bu çalışmada, heterozigot grubun kolinesteraz aktivitesinin homozigot gruptan daha yüksek olduğu bulundu (p=0,0356). Ek olarak, yabanıl tip ve heterozigot gruplarına kıyasla homozigot ve bileşik heterozigot bireylerde kolinesteraz aktivitesinin önemli ölçüde azaldığı bulundu (p=0,0272). Farklılıklar istatistiksel olarak anlamlıydı ve bu durum, biotinidaz eksikliği ile değişmiş kolinerjik fonksiyon arasında potansiyel bir bağlantıyı işaret etmektedir. Sonuç: Bulgular, özellikle ciddi formlarında biotinidaz eksikliğinin, kolinesteraz aktivitesinde önemli azalmalarla sonuçlanabileceğini ve bu durumun etkilenen bireylerde gözlemlenen nörolojik semptomlara katkıda bulunabileceğini düşündürmektedir. Bu ilişkiyi açıklamak ve BD'nin kolinesteraz aktivitesi ve nörolojik sağlık üzerindeki etkilerini hafifletmeye yönelik terapötik stratejiler geliştirmek için daha fazla araştırmaya ihtiyaç vardır.

Keywords

• Biyotinidaz eksikliği
• kolinesteraz
• metabolik bozukluk

Investigation of the effects of biotinidase deficiency on plasma cholinesterase activity

Abstract

Purpose: Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disorder that impairs the body's ability to recycle biotin, a crucial coenzyme for carboxylase enzymes involved in various metabolic processes. This study aims to evaluate the effects of biotinidase deficiency on cholinesterase activity in plasma, hypothesizing that the metabolic disruptions caused by inadequate biotin recycling may lead to alterations in cholinesterase function. Materials and methods: Plasma samples were collected from 73 individuals categorized into four genetic groups: wild type (n=12), heterozygous (n=30), homozygous (n=19), and compound heterozygous (n=12). Cholinesterase activity was measured using a colorimetric method. Results: The study discovered that the cholinesterase activity of the Heterozygous group was higher than the homozygous group (p=0.0356). Additionally, cholinesterase activity was significantly lower in homozygous and compound heterozygous people than in wild and heterozygous groups (p=0.0272). The statistically significant changes suggested a relationship between biotinidase deficiency and altered cholinergic activity. Conclusion: The findings indicate that biotinidase deficiency, particularly in its severe variants, may cause considerable reductions in cholinesterase activity, contributing to the neurological symptoms found in affected patients. More studies are needed to investigate the processes behind this association and develop strategies for reducing the effects of BD on cholinesterase activity and neurological health.

Keywords

• Biotinidase deficiency
• cholinesterase
• metabolic disorder

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