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Results: 1 to 4 of 4

Publication Record


Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
Samuels DC, Wonnapinij P, Chinnery PF
(2013) Hum Reprod 28: 554-9
MeSH Terms: Animals, Chimera, DNA, Mitochondrial, Extrachromosomal Inheritance, Female, Gene Transfer Techniques, Genetic Diseases, Inborn, Genetic Therapy, Germ Cells, Humans, Models, Genetic, Mutation, Ovum, Reproductive Techniques, Assisted, United Kingdom
Show Abstract · Added December 12, 2013
Mitochondrial medicine is one of the few areas of genetic disease where germ-line transfer is being actively pursued as a treatment option. All of the germ-line transfer methods currently under development involve some carry-over of the maternal mitochondrial DNA (mtDNA) heteroplasmy, potentially delivering the pathogenic mutation to the offspring. Rapid changes in mtDNA heteroplasmy have been observed within a single generation, and so any 'leakage' of mutant mtDNA could lead to mtDNA disease in future generations, compromising the reproductive health of the first generation, and leading to repeated interventions in subsequent generations. To determine whether this is a real concern, we developed a model of mtDNA heteroplasmy inheritance by studying 87 mother-child pairs, and predicted the likely outcome of different levels of 'mutant mtDNA leakage' on subsequent maternal generations. This showed that, for a clinical threshold of 60%, reducing the proportion of mutant mtDNA to <5% dramatically reduces the chance of disease recurrence in subsequent generations, but transmitting >5% mutant mtDNA was associated with a significant chance of disease recurrence. Mutations with a lower clinical threshold were associated with a higher risk of recurrence. Our findings provide reassurance that, at least from an mtDNA perspective, methods currently under development have the potential to effectively eradicate pathogenic mtDNA mutations from subsequent generations.
0 Communities
1 Members
0 Resources
15 MeSH Terms
Race matters: a systematic review of racial/ethnic disparity in Society for Assisted Reproductive Technology reported outcomes.
Wellons MF, Fujimoto VY, Baker VL, Barrington DS, Broomfield D, Catherino WH, Richard-Davis G, Ryan M, Thornton K, Armstrong AY
(2012) Fertil Steril 98: 406-9
MeSH Terms: Continental Population Groups, Ethnic Groups, Female, Healthcare Disparities, Humans, Male, Reproductive Techniques, Assisted, Research Report, Societies, Medical, Treatment Outcome
Show Abstract · Added February 28, 2014
OBJECTIVE - To systematically review the reporting of race/ethnicity in Society for Assisted Reproductive Technology (SART) Clinic Outcome Reporting System (CORS) publications.
DESIGN - Systematic review using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology of literature published in PubMed on race/ethnicity that includes data from SART CORS.
SETTING - Not applicable.
PATIENT(S) - Not applicable.
INTERVENTION(S) - In vitro fertilization cycles reported to SART.
MAIN OUTCOME MEASURE(S) - Any outcomes reported in SART CORS.
RESULT(S) - Seven publications were identified that assessed racial/ethnic disparities in IVF outcomes using SART data. All reported a racial/ethnic disparity. However, more than 35% of cycles were excluded from analysis because of missing race/ethnicity data.
CONCLUSION(S) - Review of current publications of SART data suggests significant racial/ethnic disparities in IVF outcomes. However, the potential for selection bias limits confidence in these findings, given that fewer than 65% of SART reported cycles include race/ethnicity. Our understanding of how race/ethnicity influences ART outcome could be greatly improved if information on race/ethnicity was available for all reported cycles.
Copyright © 2012 American Society for Reproductive Medicine. All rights reserved.
0 Communities
1 Members
0 Resources
10 MeSH Terms
Methodologies to study implantation in mice.
Deb K, Reese J, Paria BC
(2006) Methods Mol Med 121: 9-34
MeSH Terms: Anesthesia, Animals, Animals, Laboratory, Blastocyst, Breeding, Embryo Implantation, Embryo Implantation, Delayed, Embryo Transfer, Estrous Cycle, Euthanasia, Animal, Female, Injections, Mice, Pregnancy, Reproductive Techniques, Time Factors
Show Abstract · Added April 9, 2015
Pregnancy begins with fertilization of the ovulated oocyte by the sperm. After fertilization, the egg undergoes time-dependent mitotic division while trying to reach the blastocyst stage and the uterus for implantation. Uterine preparation for implantation is regulated by coordinated secretions and functions of ovarian sex steroids. The first sign of contact between the blastocyst and the uterus can be detected experimentally by an intravenous blue dye injection as early as the end of day 4 or the beginning of day 5 of pregnancy. This blastocyst-uterine attachment reaction leads to stromal decidual reaction only at sites of implantation. The process of implantation can be postponed and reinstated experimentally by manipulating ovarian estrogen secretion. Stromal decidualization can also be induced experimentally in the hormonally prepared uterus in response to stimuli other than the embryo. Fundamental biological questions surrounding these essential features of early pregnancy can be addressed through the application of various techniques and manipulation of this period of early pregnancy. This chapter describes the routine laboratory methodologies to study the events of early pregnancy, with special emphasis on the implantation process in mice.
0 Communities
1 Members
0 Resources
16 MeSH Terms
Disposition of sperm donors with resultant abnormal pregnancies.
Kuller JA, Meyer WR, Traynor KD, Hartmann KE
(2001) Hum Reprod 16: 1553-5
MeSH Terms: Chromosome Aberrations, Congenital Abnormalities, Endocrinology, Female, Genetic Testing, Humans, Male, Obstetrics, Pregnancy, Pregnancy Outcome, Reproductive Techniques, Surveys and Questionnaires, Tissue Donors
Show Abstract · Added March 5, 2014
We wished to determine how clinicians manage sperm donors whose offspring have chromosomal or structural abnormalities. A directed, multiple-choice survey was given to reproductive endocrinologists and obstetrical geneticists to assess management of sperm donors whose offspring have chromosomal or structural abnormalities. The questionnaire was completed by 66 reproductive endocrinologists and obstetrical geneticists. Abnormalities and the most common inheritance modes included: Trisomy 21 (aneuploidy, maternal origin), Turner syndrome (aneuploidy, paternal origin), cleft lip/palate (multifactorial), VATER sequence (vertebral defects, imperforate anus, tracheo-esophageal fistula, radial and renal dysplasia, sporadic inheritance), and Hurler syndrome (autosomal recessive). Response choices were: (i) remove donor from programme, (ii) inform potential recipients of prior pregnancy outcomes and continue to use donor, or (iii) further study donor to assess karyotype/mutations. Inheritance mode appeared to influence decisions to remove donors from sperm banks; however, no clear consensus was noted. Guidelines exist for screening potential gamete donors, but not for managing donors whose offspring has a chromosomal or structural abnormality. Guidelines must be developed to manage sperm donors with untoward pregnancy outcomes.
0 Communities
1 Members
0 Resources
13 MeSH Terms