OBJECTIVE: To evaluate the influence of aging on the achondroplasia mutation rate in the male germline. DESIGN: Studies in sperm and testis biopsy DNA according to donor's age. SETTING: University teaching hospital. PATIENT(S): Seventeen donors aged 30 to 65 years for sperm collection and 14 deceased donors aged 53 to 95 years for testis biopsies, all with normal stature. INTERVENTION(S): Testes were obtained from 14 deceased donors, and sperm was obtained from 17 patients who requested ART. MAIN OUTCOME MEASURE(S): Real-time polymerase chain reaction quantification of the G1138A mutation in sperm and testis biopsies. RESULT(S): The rate of G1138A mutation did not significantly vary with age in sperm, whereas in testis biopsies it increased markedly past the age of 70 years. Moreover, and for the first time, a mosaic for this mutation was detected in the testis of three subjects who were >80 years of age. CONCLUSION(S): These findings could contribute to providing a molecular explanation for the increased incidence of achondroplastic offspring with advanced paternal age.
OBJECTIVE: To evaluate the influence of aging on the achondroplasia mutation rate in the male germline. DESIGN: Studies in sperm and testis biopsy DNA according to donor's age. SETTING: University teaching hospital. PATIENT(S): Seventeen donors aged 30 to 65 years for sperm collection and 14 deceased donors aged 53 to 95 years for testis biopsies, all with normal stature. INTERVENTION(S): Testes were obtained from 14 deceased donors, and sperm was obtained from 17 patients who requested ART. MAIN OUTCOME MEASURE(S): Real-time polymerase chain reaction quantification of the G1138A mutation in sperm and testis biopsies. RESULT(S): The rate of G1138A mutation did not significantly vary with age in sperm, whereas in testis biopsies it increased markedly past the age of 70 years. Moreover, and for the first time, a mosaic for this mutation was detected in the testis of three subjects who were >80 years of age. CONCLUSION(S): These findings could contribute to providing a molecular explanation for the increased incidence of achondroplastic offspring with advanced paternal age.
Authors: Brian Miller; Jaana Suvisaari; Jouko Miettunen; Marjo-Riitta Järvelin; Jari Haukka; Antti Tanskanen; Jouko Lönnqvist; Matti Isohanni; Brian Kirkpatrick Journal: Schizophr Res Date: 2011-09-19 Impact factor: 4.939
Authors: Jasmine Lim; Geoffrey J Maher; Gareth D H Turner; Wioleta Dudka-Ruszkowska; Stephen Taylor; Ewa Rajpert-De Meyts; Anne Goriely; Andrew O M Wilkie Journal: PLoS One Date: 2012-08-06 Impact factor: 3.240
Authors: Anne Goriely; Ruth M S Hansen; Indira B Taylor; Inge A Olesen; Grete Krag Jacobsen; Simon J McGowan; Susanne P Pfeifer; Gilean A T McVean; Ewa Rajpert-De Meyts; Andrew O M Wilkie Journal: Nat Genet Date: 2009-10-25 Impact factor: 38.330