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PMID: 23494242 Published · ppublish English Journal Article Review

Silencing human genetic diseases with oligonucleotide-based therapies.

Human genetics ·Vol. 132 ·No. 5 ·2013-05-00 ·Pages 481-93

Martínez T, Wright N, López-Fraga M, Jiménez AI, Pañeda C

Abstract

RNA interference is an endogenous mechanism present in most eukaryotic cells that enables degradation of specific mRNAs. Pharmacological exploitation of this mechanism for therapeutic purposes attracted a whole amount of attention in its initial years, but was later hampered due to difficulties in delivery of the pharmacological agents to the appropriate organ or tissue. Advances in recent years have to a certain level started to address this specific issue. Genetic diseases are caused by aberrations in gene sequences or structure; these particular abnormalities are in theory easily addressable by RNAi therapeutics. Sequencing of the human genome has largely contributed to the identification of alterations responsible for genetic conditions, thus facilitating the design of compounds that can address these diseases. This review addresses the currently on-going programs with the aim of developing RNAi and other antisense compounds for the treatment of genetic conditions and the pros and cons that these products may encounter along the way. The authors have focused on those programs that have reached clinical trials or are very close to do so.

MeSH Terms
Antisense Elements (Genetics)/therapeutic use Genetic Diseases, Inborn/therapy Humans Oligonucleotides/therapeutic use RNA Interference RNA, Small Interfering/genetics,therapeutic use
Chemicals
Antisense Elements (Genetics) Oligonucleotides RNA, Small Interfering
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Martínez Tamara
Sylentis, PCM C/Santiago Grisolía no 2, Tres Cantos, 28760, Madrid, Spain.
Wright Natalia
López-Fraga Marta
Jiménez Ana Isabel
Pañeda Covadonga
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
1432-1203
DOI
10.1007/s00439-013-1288-1
Published
2013-05-00
Epub
2013-00-14
Pages
481-93
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/s00439-013-1288-1 View journal details
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