Anormal Sperm Motilitesine Bağlı Erkek İnfertilitesinde Mitokondriyal A3243G Mutasyonunun Rolü

Öz

Amaç: İnfertil çiftlerin yaklaşık yarısında sebep erkeğe bağlı faktörlerdir. Erkek infertilitesinde en sık nedenler; kromozomal anomaliler, Y kromozom mikrodelesyonları ve hormon/reseptör anomalileri gibi genetik faktörlerdir. Son zamanlarda yapılan incelemeler ışığında, sperm motilite bozuklukları erkek infertilitesinde önemli bir neden haline gelmiştir. Sperm fonksiyonunda sperm mitokondrisi önemli bir role sahiptir ve mtDNA’da oluşan genetik değişimler normal fertilizasyonu etkilemektedir. Araştırmamızda, en sık görülen mitokondriyal mutasyonlardan biri olan A3243G’nin, anormal sperm motilitesi nedeniyle oluşan erkek infertilitesindeki rolünü saptamayı amaçladık.

Yöntem: Anormal sperm motilitesi bulunan 49 infertil erkek ve 22 fertil erkeğin semen ve periferik kanından mtDNA A3243G mutasyon analizi yapıldı. Anormal sperm motilitesi olan olgularda, yaş, sigara alışkanlığı ve varikosel gibi diğer faktörler de sorgulandı.

Bulgular: İnfertil ve fertil olguların hiçbirinde bu mutasyona rastlanmadı.

Tartışma ve sonuç: Çalışmamızın sonucu A3243G mutasyonunun sperm motilitesi üzerinde pek bir etkisi olmadığını gösterse de, olgu sayımızın az olması ve Türk popülasyonunun heterojen olması bu duruma yol açmış olabilir.

Anahtar Kelimeler

• mutasyon,infertilite,mitokondri,A3243G mitokondriyal mutasyon,MTL1 geni

Kaynakça

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