Reproduction   citetrack
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS  
Reproduction (2002) 123 751-755
DOI: 10.1530/rep.0.1230751
Copyright © 2002 Society for Reproduction and Fertility
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Poulton, J
Right arrow Articles by Marchington, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Poulton, J
Right arrow Articles by Marchington, D.

Articles

Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications

J Poulton and DR Marchington

Mitochondrial DNA (mtDNA) is almost entirely maternally inherited. Thousands of copies of mtDNA are present in every nucleated cell and in most normal individuals these are virtually identical (homoplasmy). mtDNA diseases may be caused by mutations in either mitochondrial or nuclear genes and, hence, give rise to maternal or autosomal patterns of inheritance. Antenatal diagnosis of mitochondrial diseases based on chorionic villous sampling is available for Mendelian disorders and the syndromes caused by mutations at bp 8993 (associated with Leigh's syndrome and neurogenic weakness, ataxia and retinitis pigmentosa (NARP)). However, prenatal diagnosis of many other maternally inherited mtDNA diseases is less reliable because it is not possible to predict with confidence the way in which heteroplasmic mtDNA mutations segregate within tissues and find clinical expression. This review focuses on the substantial progress in genetics that has been made recently, and on the management options that clinicians can offer to families.


This article has been cited by other articles:


Home page
 Hum Reprod UpdateHome page
A.L. Bredenoord, G. Pennings, H.J. Smeets, and G. de Wert
Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders
Hum. Reprod. Update, January 1, 2008; 14(1): 83 - 94.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A L Frederiksen, P H Andersen, K O Kyvik, T D Jeppesen, J Vissing, and M Schwartz
Tissue specific distribution of the 3243A->G mtDNA mutation
J. Med. Genet., August 1, 2006; 43(8): 671 - 677.
[Abstract] [Full Text] [PDF]

Home page
 Hum Reprod UpdateHome page
L.J.A.M. Jacobs, G. de Wert, J.P.M. Geraedts, I.F.M. de Coo, and H.J.M. Smeets
The transmission of OXPHOS disease and methods to prevent this
Hum. Reprod. Update, March 1, 2006; 12(2): 119 - 136.
[Abstract] [Full Text] [PDF]

Home page
 Mol Biol EvolHome page
C. Santos, R. Montiel, B. Sierra, C. Bettencourt, E. Fernandez, L. Alvarez, M. Lima, A. Abade, and M. P. Aluja
Understanding Differences Between Phylogenetic and Pedigree-Derived mtDNA Mutation Rate: A Model Using Families from the Azores Islands (Portugal)
Mol. Biol. Evol., June 1, 2005; 22(6): 1490 - 1505.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
L.J.A.M. Jacobs, I.F.M. de Coo, J.G. Nijland, R.J.H. Galjaard, F.J. Los, K. Schoonderwoerd, M.F. Niermeijer, J.P.M. Geraedts, H.R. Scholte, and H.J.M. Smeets
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation
Mol. Hum. Reprod., March 1, 2005; 11(3): 223 - 228.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
N. L. Dean, B. J. Battersby, A. Ao, R. G. Gosden, S. L. Tan, and E. A. Shoubridge
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases
Mol. Hum. Reprod., October 1, 2003; 9(10): 631 - 638.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS  
Copyright © 2002 by the Society for Reproduction and Fertility.