POLG mutations and age at menopause

Human Reproduction

Volumn 27, Issue 7, 2012, Pages 2243-2244

  Duncan, Andrew J ^a   Knight, Jack A ^a   Costello, Harry ^a   Conway, Gerard S ^b   Rahman, Shamima ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; FOLLITROPIN; FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; COHORT ANALYSIS; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; LETTER; MAJOR CLINICAL STUDY; MENOPAUSE; MUTATIONAL ANALYSIS; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SECONDARY AMENORRHEA; SEQUENCE ANALYSIS;

EID: 84863606022     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des130     Document Type: Letter

References (13)

1. Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J et al. The unfolding clinical spectrum of POLG mutations. J Med Genet 2009; 46:776-785.
2. Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol 2012;47:64-72.
3. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Van Goethem G, Lofgren A, Hackman P, Paetau A et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient european origin. Am J Hum Genet 2005;77:430-441. (Pubitemid 41192649)
4. Hekimi S, Lapointe J, Wen Y. Taking a 'good' look at free radicals in the aging process. Trends Cell Biol 2011;21:569-576.
5. Hudson G, Schaefer AM, Taylor RW, TiangyouW, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase g-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Arch Neurol 2007;64:553-557. (Pubitemid 46588345)
6. Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC. Consequences of mutations in human DNA polymerase gamma. Gene 2005; 354:125-131. (Pubitemid 41116691)
7. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase g mutations: clinical and molecular genetic study. Lancet 2004;364:875-882. (Pubitemid 39221065)
8. Manusco M, Filosto M, Oh SJ, DiMAuro S. A novel polymerase g mutation in a family with ophthalmoplegia, neuropathy and parkinsonism. Arch Neurol 2004;61:1777-1779. (Pubitemid 39463436)
9. Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 2006;21:2467-2473. (Pubitemid 44542135)
10. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 2001;29:261-262. (Pubitemid 33096448)
11. Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Florian E et al. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012. doi: 10.1038/ng.1051
12. Tong ZB, Sullivan SD, Lawless LM, Vanderhoof V, Zachman K, Nelson LM. Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46, XX primary ovarian insufficiency. Fertil Steril 2010;94:2932-2934.
13. Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlö f S, Oldfors A, Wibom R et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004;429:417-423. (Pubitemid 38715133)