title: Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.
abstract: The creatine/phosphocreatine system is essential for cellular phosphate coupled energy storage and production, particularly in tissues subject to high metabolic demands. Male factor infertility is a common condition with unknown etiology in most of the cases. Sperm abnormalities could possibly lead to infertility. As sperm motility depends on intact mitochondrial function and energy levels. Thus reduced intracellular creatine stores may contribute to decreased sperm motility leading to male infertility as creatine /phosphocreatine system plays major role in making and breaking of ATP, thus in energy kinetics. We developed and validated a denaturing high performance liquid chromatograph (DHPLC) method for the molecular analysis of SLC6A8 and GAMT genes involve in creatine biosynthesis and transport as a possible source of human male infertility by analyzing DNA from 64, clinically confirmed, infertile men. No mutation/polymorphism was detected in the exonic regions of both genes in all the patients and in fertile healthy controls indicating that SLC6A8 and GAMT genes may not be directly involved in human male infertility.
authors.affiliation: Institute of Pure and Applied Biology, Zoology Division. Bahauddin Zakariya University, Multan, Pakistan. furhan.iqbal@bzu.edu.pk
authors.forename: Furhan
authors.initials: F
authors.lastname: Iqbal
authors.forename: Chike Bellarmine
authors.initials: CB
authors.lastname: Item
authors.forename: Rene
authors.initials: R
authors.lastname: Ratschmann
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ali
authors.forename: Eugen
authors.initials: E
authors.lastname: Plas
authors.forename: Olaf
authors.initials: O
authors.lastname: Bodamer
mesh_terms: D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D050937:Guanidinoacetate N-Methyltransferase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007202:Indicators and Reagents; D007248:Infertility, Male / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000235:genetics* / Q000378:metabolism; D011489:Protein Denaturation; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D007202:Indicators and Reagents; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D004247:DNA; D050937:Guanidinoacetate N-Methyltransferase