Anormal Sperm Motilitesine Bağlı Erkek İnfertilitesinde Mitokondriyal A3243G Mutasyonunun Rolü

Yıl 2015, Cilt: 29 Sayı: 3, 89 - 94, 12.05.2016

Elçin Bora Özlem Giray Bozkaya Esra Ataman Tufan Çankaya Aykut Kefi Ayfer Ülgenalp Ferda Özkınay

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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