Johnson W G, Lucek P R, Chatkupt S, Furman Y, Lustenberger A, Lazzarini A
Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, USA.
Am J Med Genet. 1995 Nov 6;59(2):149-53. doi: 10.1002/ajmg.1320590206.
In order to study genetic aspects in multicase families, 89 amyotrophic lateral sclerosis (ALS) and 214 Parkinson disease (PD) kindreds were analyzed in parallel studies. Obligate gene-carriers were identified as described previously [Chatkupt et al., 1992: Am J Med Genet 44:508-512]. There were fewer children per gene-carrier male (2.42) than per gene-carrier female (3.25, Student's t-test, P < .0003) for ALS but not for other diseases. The data taken together suggest that fecundity in ALS gene-carriers was reduced in males, possibly as a result of reduced fertility. Since childbearing is usually accomplished well before the onset of neurological symptoms in ALS, and since reduced fecundity was found in male ALS gene-carriers, these findings raise the possibility that an ALS gene might have a pleiotrophic effect on fertility in males occurring decades before the onset of neurological symptoms. Evidence is presented linking reactive oxygen species to reduced fertility in males. Alternatively, decreased or nonfunctional androgen receptors could play a role.
为了研究多病例家族中的遗传因素，在平行研究中对89个肌萎缩侧索硬化症（ALS）家族和214个帕金森病（PD）家族进行了分析。如先前所述[Chatkupt等人，1992年：《美国医学遗传学杂志》44:508 - 512]确定了必然的基因携带者。对于ALS，每个男性基因携带者的子女数（2.42）少于每个女性基因携带者的子女数（3.25，学生t检验，P < 0.0003），但其他疾病并非如此。综合这些数据表明，ALS基因携带者中男性的生育力降低，可能是由于生育能力下降所致。由于生育通常在ALS神经症状出现之前就已完成，并且在男性ALS基因携带者中发现了生育力降低的情况，这些发现增加了一种可能性，即ALS基因可能在神经症状出现前数十年就对男性生育力产生多效性影响。文中提供了将活性氧与男性生育力降低联系起来的证据。或者，雄激素受体减少或无功能可能起作用。
