Open main menu
Home
Random
Recent changes
Special pages
Community portal
Preferences
About Wikipedia
Disclaimers
Incubator escapee wiki
Search
User menu
Talk
Dark mode
Contributions
Create account
Log in
Editing
Frameshift mutation
(section)
Warning:
You are not logged in. Your IP address will be publicly visible if you make any edits. If you
log in
or
create an account
, your edits will be attributed to your username, along with other benefits.
Anti-spam check. Do
not
fill this in!
===Cures=== Finding a cure for the diseases caused by frameshift mutations is rare. Research into this is ongoing. One example is a [[primary immunodeficiency]] (PID), an inherited condition which can lead to an increase in infections. There are 120 genes and 150 mutations that play a role in primary immunodeficiencies. The standard treatment is currently '''gene therapy''', but this is a highly risky treatment and can often lead to other diseases, such as leukemia. Gene therapy procedures include modifying the zinc fringer nuclease fusion protein, cleaving both ends of the mutation, which in turn removes it from the sequence. Antisense-oligonucleotide mediated '''exon skipping''' is another possibility for Duchenne [[muscular dystrophy]]. This process allows for passing over the mutation so that the rest of the sequence remains in frame and the function of the protein stays intact. This, however, does not cure the disease, just treats symptoms, and is only practical in structural proteins or other repetitive genes. A third form of repair is '''revertant mosaicism''', which is naturally occurring by creating a reverse mutation or a mutation at a second site that corrects the reading frame. This reversion may happen by intragenic [[Genetic recombination|recombination]], [[mitotic]] gene conversion, second site DNA slipping or site-specific reversion. This is possible in several diseases, such as [[X-linked severe combined immunodeficiency]] (SCID), [[Wiskott–Aldrich syndrome]], and [[Bloom syndrome]]. There are no drugs or other pharmacogenomic methods that help with PIDs.<ref name="PID treatments">{{cite journal|last=Hu|first=Hailiang|author2=Gatti, Richard A|title=New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals|journal=Current Opinion in Allergy and Clinical Immunology|volume=8|issue=6|pages=540–6|doi=10.1097/ACI.0b013e328314b63b |pmid=18978469 |pmc=2686128 |year=2008}}</ref> A European patent (EP1369126A1) in 2003 by Bork records a method used for prevention of cancers and for the curative treatment of cancers and precancers such as DNA-mismatch repair deficient (MMR) sporadic tumours and HNPCC associated tumours. The idea is to use '''immunotherapy''' with combinatorial mixtures of tumour-specific frameshift mutation-derived peptides to elicit a cytotoxic T-cell response specifically directed against tumour cells.<ref>European Patent [https://patents.google.com/patent/EP1369126A1/en] (December 10, 2003) "Use of coding microsatellite region frameshift mutation-derived peptides for treating cancer" by Bork ''et al''</ref>
Edit summary
(Briefly describe your changes)
By publishing changes, you agree to the
Terms of Use
, and you irrevocably agree to release your contribution under the
CC BY-SA 4.0 License
and the
GFDL
. You agree that a hyperlink or URL is sufficient attribution under the Creative Commons license.
Cancel
Editing help
(opens in new window)