A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent

Deepa Selvi Rani; Ayyasamy Vanniarajan; Nalini J Gupta; Baidyanath Chakravarty; Lalji Singh; Kumarasamy Thangaraj

doi:10.1016/j.fertnstert.2006.04.044

A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent

Fertil Steril. 2006 Dec;86(6):1783-5. doi: 10.1016/j.fertnstert.2006.04.044. Epub 2006 Oct 25.

Authors

Deepa Selvi Rani¹, Ayyasamy Vanniarajan, Nalini J Gupta, Baidyanath Chakravarty, Lalji Singh, Kumarasamy Thangaraj

Affiliation

¹ Centre for Cellular and Molecular Biology, Hyderabad, India.

PMID: 17069814
DOI: 10.1016/j.fertnstert.2006.04.044

Abstract

We have analyzed the mitochondrial DNA of 34 oligoasthenozoospermic men along with 150 normozoospermic fertile men from the Indian subcontinent. A novel missense mutation (C11994T) in the ND4 gene, which replaces threonine with isoleucine, was observed in all of the oligoasthenozoospermic men but not in any of the normozoospermic fertile men.

Publication types

Controlled Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Genetic Predisposition to Disease / epidemiology
Genetic Predisposition to Disease / genetics
Humans
India / epidemiology
Infertility, Male / genetics*
Male
Mutation, Missense / genetics
NADH Dehydrogenase / genetics*
Oligospermia / epidemiology*
Oligospermia / genetics*
Prevalence
Risk Assessment / methods*
Risk Factors
Sperm Motility / genetics*

Substances

DNA, Mitochondrial
NADH dehydrogenase subunit 4
NADH Dehydrogenase