DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella

Area of Science:

• Genetics
• Reproductive Biology
• Cell Biology

Background:

• Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia.
• MMAF results from abnormal development of sperm flagella, leading to infertility.

Purpose of the Study:

• To identify novel gene mutations responsible for severe asthenozoospermia and MMAF.
• To investigate the role of DNAH17 in sperm flagella development and function.

Main Methods:

• Papanicolaou staining and transmission electron microscopy were used to analyze spermatozoa.
• Whole exome sequencing identified mutations in a patient with severe asthenozoospermia and MMAF.
• Sanger sequencing confirmed mutations in the family; DNAH17 expression was assessed via immunofluorescence and Western blot.

Main Results:

• Biallelic mutations (c.C4445T, p.A1482V and c.C6857T, p.S2286L) were identified in the DNAH17 gene.
• DNAH17 protein expression was nearly undetectable in spermatozoa from the affected patient.
• The identified mutations are linked to severe asthenozoospermia and MMAF.

Conclusions:

• The study demonstrates a potential link between DNAH17 gene mutations and severe asthenozoospermia with MMAF.
• DNAH17 plays a crucial role in sperm flagella formation and function.
• These findings contribute to understanding the genetic basis of male infertility.