• PMID: 18481423
• Gene Name: MTCYB
• Condition: Asthenospermia
• Association: Associated
• Mutation: MTATP6 (G8887A)
• Population size: 100
• Population details: 100 (80 semen samples of asthenospermia, 20 of normal sperm motility)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MTCYB, MTATP6
• Other associated phenotypes: Asthenospermia

[Mutation of MTCYB and MTATP6 is associated with asthenospermia]

Feng CQ, Song YB, Zou YG, Mao XM.

OBJECTIVE: To explore the correlation of the mutation of MTCYB and MTATP6 genes in sperm mitochondria with asthenospermia. METHODS: We extracted mtDNA from 80 semen samples of asthenospermia and 20 of normal sperm motility, amplified the MTCYB and MTATP6 genes by PCR, and analyzed their mutation by sequencing and BLAST matching. RESULTS: The deletion of both MTCYB and MTATP6 were detected in 20 of the 80 asthenospermia samples, MTCYB deletion in 16 and MTATP6 deletion in 4, accounting for 20% and 5% respectively. Sequencing and BLAST matching revealed G8887A mutation in the MTATP6 gene in the asthenospermia samples, with a mutation rate of 20%, while no regular mutation was noted in MTCYB. Neither significant deletion nor mutation was observed in any of the 20 samples of normal sperm motility. CONCLUSION: Both the deletion and mutation of MTCYB and MTATP6 genes in sperm mitochondria might affect sperm motility in adults. FAU - Feng, Chun-Qiong AU - Feng CQ AD - Institute of Genetic engineering, Southern Medical University, Guangzhou, Guangdong 510515, China. FAU - Song, Yan-Bin AU - Song YB FAU - Zou, Ya-Guang AU - Zou YG