1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
|
{
"titles": [
"1993 - Genomic Damage and Its Repair.pdf",
"2007 - Trends in oxidative aging theories.pdf",
"2020 - Clinical Genetics and Genomics of Aging.pdf",
"2019 - Towards Understanding Genomic Instability, Mitochondrial.pdf",
"2002 - Pharmacology, Genomics, and the Evolutionary Biology.pdf",
"2002 - Large genome rearrangements as a primary cause of aging.pdf",
"2016 - Genome Integrity in Aging.pdf",
"2009 - Genomic instability and DNA damage responses in progeria arising.pdf",
"2023 - Genome-wide RNA polymerase stalling.pdf",
"2016 - Menopause Genome stability as new paradigm.pdf"
],
"extraction_id": [
"64063108-0ff2-54e5-9801-bc1c49cbdee4",
"752c6f1a-0c4d-5419-86cd-687d2aed7817",
"ead14808-bfb7-5e32-9830-28efaae71151",
"d620ea24-4422-5636-86f5-0943371a4a18",
"e501662f-ffca-563b-97a7-b682a5d7f6ba",
"8f1a0875-8179-5d45-abc0-bbd4c9ac8da5",
"17b26647-4659-5f2d-a9b0-7c122d4b5d1a",
"72beba0d-8c77-5aa9-82ac-ddf6a19355ac",
"31088092-778f-59e0-a9de-5ec25c241aab",
"0855231d-cb95-540c-a3dd-c93729efb34c"
],
"document_id": [
"d049f302-a130-5ee4-a1b5-5091605d5173",
"0d752c1a-706a-5b9e-88ef-ba7c51735c3c",
"62b635c3-040e-512a-b016-6ef295308a1e",
"9b34514d-3d0e-52b5-8e5e-2f3c0708fd82",
"1bc636a3-6ce0-5fea-b549-0dae90a78f1b",
"8a8926dc-2360-5a54-b586-8acc34e51c32",
"85d5fcbb-5385-5a01-8139-d11fc8b1fe3a",
"b7d96f9f-8ad4-5f8f-94f9-60404806d478",
"78812a12-8d31-5159-8367-b0d38e5bc84b",
"564dead1-2737-572f-860c-f00de4d0395e"
],
"id": [
"chatcmpl-AIGmRJNSU1IpWwTrk2tDfmXqGWPRd",
"a9f7eda5-1b64-507e-95dd-07c81f2d603b",
"882149e3-8186-5577-a2a7-79f2659ff9b4",
"da4e59b7-d5b6-5992-9607-f6697c8f5276",
"4841d806-98b4-513e-94a2-714df6c896f5",
"fc10c968-3108-5c4b-a49c-cb0feabd18c5",
"eb8b89de-422a-5e9e-9ac8-60af4cd718c2",
"34e6b3c4-63bf-5198-ab09-2a7200a7c19a",
"beed04cc-28c7-5dc7-b334-51226a217439",
"badf3a36-1f99-58aa-b80c-725eccf4e8f3",
"c35d1f43-c3bd-5cac-ae4d-937be35f1121"
],
"contexts": [
"logical phenomena is often facilitated by the study of genetic mutants, and, in the case of humans, genetic disorders. Accordingly, a search was made, over the years, for genetic disorders characterized by premature aging. If DNA dam- age and repair has anything to do with aging it should be evidenced in such individuals. Martin (1978) listed 162 genetic syndromes in humans with some or many signs of premature aging. About 21 feahares are considered as markers for",
"[315] Szilard, L. On the nature of the aging process. Proc. Natl. Acad. Sci. USA 45:3545; 1959. [316] Vijg, J.; Dolle, M. E. Large genome rearrangements as a primary cause of aging. Mech. Ageing Dev. 123:907915; 2002. [317] Vijg, J. Somatic mutations and aging: a re-evaluation. Mutat. Res. 447:117135; 2000. [318] Martin, G. M. Genetic syndromes in Man with potential relevance to the pathobiology of aging. Birth Defects Orig. Artic. Ser. 14:539; 1978.",
"19 6. Milholland B, Suh Y , Vijg J.Mutation and catastrophe in the aging genome. Exp Gerontol. 2017;94:3440. 7. Maslov AY , Ganapathi S, Westerhof M, Quispe-Tintaya W, White RR, Van Houten B, etal. DNA damage in normally and prematurely aged mice. Aging Cell. 2013;12:46777. 8. Blokzijl F, de Ligt J, Jager M, Sasselli V , Roerink S, Sasaki N, etal. Tissue-specific mutation accumulation in human adult stem cells during life. Nature. 2016;538:2604.",
"143 Gonzalo S, Kreienkamp R & Askjaer P (2017) Hutchinson -Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. Ageing Res. Rev. 33, 1829. 144 Lu L, Jin W & Wang LL (2017) Aging in Ro thmund -Thomson syndrome and related RECQL4 genetic disorders. Ageing Res. Rev. 33, 3035. 145 de Renty C & Ellis NA (2017) Blooms syndrome: Why not premature aging? Ageing Res. Rev. 33, 3651. 146 Shiloh Y & Lederman HM (2017) Ataxia -telangiectasia (A -T): An emerging",
"genetic disease model of premature aging, In: Harrison,D.E., eds, Genetic Effects on Aging II (Telford Press, Caldwell,NJ), pp. 521542. [2] Djawdan, M., Sugiyama, T., Schlaeger, L., Bradley, T.J. and Rose, M.R. (1996) Metabolic aspects of the trade-off between fecundity and longevity in Drosophila melanogaster ,Physiol. Zool. 69, 11751195. [3] Fleming, J.E., Spicer, G.S., Garrison, R.C. and Rose, M.R.",
"genes of a whole chromosome ineffective, couldbe a main causal factor in aging (Szilard, 1959).According to Maynard Smith, such types of mu-tations do not seem likely to be common enoughto be the main cause of aging. However, at thetime quantitative information on the possible age-related accumulation of different types of muta-tions in various tissues of mammals wascompletely lacking. The question, therefore,whether somatic mutations are a cause of aging,has not been resolved, more than four decadesafter",
"features of premature aging (16, 17). Subsequent experiments conrmed that mitochondrial DNA mutations and deletions were the driving force behind the observed accelerated aging phenotypes(18). THE LINK BETWEEN NUCLEAR GENOME INTEGRITY AND PREMATURE AGING The notion that the majority of currently identied progeria syndromes originate from defects in genome maintenance highlights the importance of the condition of DNA in the process of",
"Tryggvason K,ZhouZ.Genomicinstability inlaminopathy based premature aging,NatMed. 2005;11:780 785. 13.MisteliT,ScaffidiP.Genomeinstability inprogeria:when repairgetsold,NatMed. 2005;11:718 719. 14.PereiraS,Bourgeois P,NavarroC,EstevesVieiraV,CauP,De SandreGiovannoli A,LvyN.HGPSandrelatedpremature aging disorders: Fromgenomicidentification tothefirsttherapeutic approaches, MechAgeingDev.2008;129:449 459. 15.SmithED,Kudlow BA,FrockRL,KennedyBK.Atypenuclear",
"Nature Genetics | Volume 55 | February 2023 | 268279 278 Article https://doi.org/10.1038/s41588-022-01279-621. Tiwari, V. & Wilson, D. M. 3rd. DNA damage and associated DNA repair defects in disease and premature aging. Am. J. Hum. Genet. 105, 237257 (2019). 22. Tamae, D., Lim, P., Wuenschell, G. E. & Termini, J. Mutagenesis and repair induced by the DNA advanced glycation end product N2-1-(carboxyethyl)-2-deoxyguanosine in human cells. Biochemistry 50, 23212329 (2011).",
"[36] J. de Boer, J.O. Andressoo, J. de Wit, J. Huijmans, R.B. Beems, H. van Steeg, et al., Premature aging in mice decient in DNA repair and transcription, Science 296 (2002) 12761279. [37] S.M. Schuh-Huerta, N.A. Johnson, M.P. Rosen, B. Sternfeld, M.I. Cedars, R.A. Reijo Pera, Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities, Hum. Genet. 131 (2012) 17091724."
],
"answer": "Yes, there are known genetic mutations that cause premature aging. Some specific genetic syndromes associated with premature aging include: 1. Hutchinson-Gilford Progeria Syndrome, which is caused by mutations in the LMNA gene [4]. 2. Rothmund-Thomson syndrome and related disorders, which are associated with mutations in the RECQL4 gene [4]. 3. Ataxia-telangiectasia, which is another genetic disorder linked to premature aging [4]. Additionally, Martin (1978) listed 162 genetic syndromes in humans that exhibit some or many signs of premature aging [1]. These conditions highlight the connection between genetic mutations and premature aging.",
"question": "Are there any known genetic mutations that cause premature aging?"
}
|
