Journal of Cell Science and Mutations

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +44-1518-081136

Review Article - Journal of Cell Science and Mutations (2023) Volume 7, Issue 3

Role of insertions and deletions in genetic diseases.

Natesan Caterina*

Department of Genetic Mutations, University of Trento, Trento, Italy

Corresponding Author:
Natesan Caterina
Department of Genetic Mutations
University of Trento, Trento, Italy
E-mail: caterina@unimi.it

Received: 26-Apr-2023, Manuscript No. AAACSM-23-97319; Editor assigned: 27-Apr-2023, PreQC No. AAACSM-23-97319(PQ); Reviewed: 11-May-2023, QC No. AAACSM-23-97319; Revised: 15-May-2023, Manuscript No. AAACSM-23-97319(R); Published: 22-May-2023, DOI:10.35841/AAACSM-7.3.150

Citation: Caterina N. Role of insertions and deletions in genetic diseases. J Cell Sci Mut. 2023;7(3):150

Visit for more related articles at Journal of Cell Science and Mutations

Insertions and deletions (indels) are a type of DNA mutation that can cause genetic diseases. These mutations occur when one or more nucleotides are added or removed from the DNA sequence, resulting in a shift in the reading frame and the production of a non-functional protein. Indels can cause a range of genetic diseases, from mild disorders to severe and lifethreatening conditions. For example, cystic fibrosis is caused by an indel in the CFTR gene that results in the production of a non-functional protein that is unable to regulate the movement of salt and water in and out of cells [1].

Another example is Huntington's disease, which is caused by an indel in the huntingtin gene that results in the production of an abnormal protein that accumulates in the brain and causes neuronal dysfunction and death. Indels can also contribute to the development and progression of cancer. For example, indels in the TP53 gene, which encodes a tumor suppressor protein, are commonly found in a variety of cancers and can result in the loss of TP53 function and the promotion of tumor growth. Identifying and understanding the role of indels in genetic diseases is important for the development of targeted therapies. One approach is to use genome editing technologies, such as CRISPR-Cas9, to correct the indel in affected cells. Another approach is to develop drugs that target the abnormal protein produced by the indel, either by promoting its degradation or preventing its accumulation [2].

In addition to the development of targeted therapies, the study of indels in genetic diseases can also provide insights into basic cellular and molecular mechanisms. For example, research on indels in the CFTR gene has led to a better understanding of how ion channels work and the importance of regulating salt and water balance in the body. Indels can cause a range of genetic diseases, from mild disorders to severe and life-threatening conditions. For example, cystic fibrosis is caused by an indel in the CFTR gene that results in the production of a non-functional protein that is unable to regulate the movement of salt and water in and out of cells. Another example is Huntington's disease, which is caused by an indel in the huntingtin gene that results in the production of an abnormal protein that accumulates in the brain and causes neuronal dysfunction and death. Indels can also contribute to the development and progression of cancer. For example, indels in the TP53 gene, which encodes a tumor suppressor protein, are commonly found in a variety of cancers and can result in the loss of TP53 function and the promotion of tumor growth [3,4].

Identifying and understanding the role of indels in genetic diseases is important for the development of targeted therapies. One approach is to use genome editing technologies, such as CRISPR-Cas9, to correct the indel in affected cells. Another approach is to develop drugs that target the abnormal protein produced by the indel, either by promoting its degradation or preventing its accumulation. In addition to the development of targeted therapies, the study of indels in genetic diseases can also provide insights into basic cellular and molecular mechanisms. For example, research on indels in the CFTR gene has led to a better understanding of how ion channels work and the importance of regulating salt and water balance in the body [5].

In conclusion, indels are an important type of DNA mutation that can cause a range of genetic diseases, from mild disorders to severe and life-threatening conditions. Understanding the mechanisms and consequences of these mutations is critical for the development of targeted therapies and for gaining insights into basic cellular and molecular processes.

References

  1. Reilly N, Charbin A. Facile synthesis of budding yeast a-factor and its use to synchronize cells of a mating type. Yeast. 2012;29(6):233-40.

    2. Indexed at, Google Scholar, Cross Ref

  2. Hara Y. Intranuclear DNA density affects chromosome condensation in metazoans. Mol Biol Cell.2013;24(15):2442-53.

    3. Indexed at, Google Scholar, Cross Ref

  3. Robellet X, Thattikota Y. A high-sensitivity phospho-switch triggered by Cdk1 governs chromosome morphogenesis during cell division. Genes Dev. 2015;29:426-39.

    4. Indexed at, Google Scholar, Cross Ref

  4. Nakazawa N, Xu X, RNA pol II transcript abundance controls condensin accumulation at mitotically up-regulated and heat-shock-inducible genes in fission yeast. Gene Cell.2015;20(6):481-99.

    5. Indexed at, Google Scholar, Cross Ref

  5. Walther N. A quantitative map of human Condensins provides new insights into mitotic chromosome architecture. J Cell Biol.2018; 217(7):2309-28.

    6. Indexed at, Google Scholar, Cross Ref

Get the App