Study of Mitochondrial DNA Variant MT-ND1 m.3700G>A and Its Association with Male Infertility Conditions Non-Obstructive Azoospermia and Cryptozoospermia

What this Trial Is About

This research investigates severe forms of male infertility called idiopathic non-obstructive azoospermia and cryptozoospermia, where sperm production is absent or extremely low due to unknown causes. The study examines whether changes in mitochondrial DNA, especially the MT-ND1 m.3700G>A variant, are linked to impaired sperm production in Chinese men. It is a retrospective observational study analyzing existing clinical records and biological samples. Participants include men diagnosed with these infertility conditions, fertile men as comparison controls, and relatives of affected men for genetic analysis. The study does not provide any treatment or intervention. It focuses on examining familial inheritance patterns, the frequency of the mitochondrial DNA variant, and its association with infertility. During the study, researchers analyze clinical data and genetic testing from participants and their families. They assess the presence of the MT-ND1 m.3700G>A variant and classify the clinical condition of participants based on pre-existing records. No study-related procedures are performed, and the outcome measures include detection of the genetic variant and clinical classification of infertility conditions.

Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men