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Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients
Author(s) -
Ghédir Houda,
Braham Asma,
Viville Stéphane,
Saad Ali,
IbalaRomdhane Samira
Publication year - 2019
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.13277
Subject(s) - sperm , dna fragmentation , biology , andrology , aneuploidy , male infertility , genetics , gene , infertility , apoptosis , medicine , chromosome , pregnancy , programmed cell death
The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2 ‐mutated patients ( n = 6) and SPATA16 ‐mutated patients ( n = 2). Results for these two groups were also compared to a group of fertile men ( n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2 ‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16 ‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls ( p < 0.05), and a higher rate was observed in SPATA16 ‐mutated group compared to DPY19L2 ‐mutated group ( p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls ( p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2 ‐defects in classic globozoospermia.