Editing Transposable element (section)

== Diseases ==
Diseases often caused by TEs include

* [[Hemophilia]] A and B
** [[LINE1]] (L1) TEs that land on the human Factor VIII have been shown to cause haemophilia<ref name=":6">Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE (March 1988). "Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man". ''Nature''. '''332''' (6160): 164–6. [[Bibcode]]:1988Natur.332..164K. [[Digital object identifier|doi]]:10.1038/332164a0. [[PubMed Identifier|PMID]] 2831458.</ref>
* [[Severe combined immunodeficiency]]
** Insertion of L1 into the APC gene causes colon cancer, confirming that TEs play an important role in disease development.<ref>Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW, Vogelstein B, Nakamura Y (February 1992). "Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer". ''Cancer Research''. '''52''' (3): 643–5. [[PubMed Identifier|PMID]] 1310068.</ref>
* [[Porphyria]]
**Insertion of [[Alu element]] into the PBGD gene leads to interference with the coding region and leads to acute intermittent porphyria<ref>{{cite journal | vauthors = Mustajoki S, Ahola H, Mustajoki P, Kauppinen R | title = Insertion of Alu element responsible for acute intermittent porphyria | journal = Human Mutation | volume = 13 | issue = 6 | pages = 431–8 | date = June 1999 | pmid = 10408772 | doi = 10.1002/(sici)1098-1004(1999)13:6<431::aid-humu2>3.0.co;2-y | s2cid = 6218429 }}</ref> (AIP).
* Predisposition to [[cancer]]
**LINE1(L1) TE's and other retrotransposons have been linked to cancer because they cause genomic instability.<ref name=":6" />
* [[Duchenne muscular dystrophy]].<ref>Kazazian HH, Goodier JL (August 2002). "LINE drive. retrotransposition and genome instability". ''Cell''. '''110''' (3): 277–80. [[Digital object identifier|doi]]:10.1016/S0092-8674(02)00868-1. [[PubMed Identifier|PMID]] 12176313.</ref><ref>Kapitonov VV, Pavlicek A, Jurka J (2006). ''Anthology of Human Repetitive DNA''. ''Encyclopedia of Molecular Cell Biology and Molecular Medicine''. [[Digital object identifier|doi]]:10.1002/3527600906.mcb.200300166. {{ISBN|978-3527600908}}.</ref>
**Caused by SVA transposable element insertion in the fukutin (FKTN) gene which renders the gene inactive.<ref name=":6" />
* Alzheimer's Disease and other Tauopathies
** Transposable element dysregulation can cause neuronal death, leading to neurodegenerative disorders<ref>Sun W, Samimi H, Gamez M, Zare H, Frost B (August 2018). "Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies". ''Nature Neuroscience''. '''21''' (8): 1038–1048. [[Digital object identifier|doi]]:10.1038/s41593-018-0194-1. [[PubMed Central|PMC]] 6095477. [[PubMed Identifier|PMID]] 30038280.</ref>