Drosophila melanogaster as a Model Organism to Facilitate Rare Disease Diagnosis and Therapeutic Research

PDF

Published: 2023-11-20

DOI: 10.56557/upjoz/2023/v44i233766

Page: 61-77


Kalyla Kristina Dsouza

Department of Life Sciences, CHRIST (Deemed to be University), Bangalore 560029, Karnataka, India.

Manikantan Pappuswamy *

Department of Life Sciences, CHRIST (Deemed to be University), Bangalore 560029, Karnataka, India.

Aditi Chaudhary

Department of Life Sciences, CHRIST (Deemed to be University), Bangalore 560029, Karnataka, India.

*Author to whom correspondence should be addressed.


Abstract

Cancer is one of the leading causes of death worldwide accounting for around 10 million deaths in 2020. Cancer is caused by abnormal growth of cells in any part of the body. Genetic causes of cancer can be due to mutations in the genes. Rare mutations in genes show rare types of tumors like Neurofibromatosis and Tuberous sclerosis. The study of model organisms has been pivotal in understanding the causes of various diseases. The studies involve a variety of different methods and out of them the WES (Whole Exome Sequencing) model of research is the most common. Herein lies the future of integrating human genomics with studies in model organisms. It is essential to maintain and expand the current Drosophila melanogaster databases this houses the genomic, molecular, and cell biological knowledge on the organism. This can be done by collaboration with the NIH. The understanding of the characteristics of cancer cells plays an important role in terms of how to go about with research tumor and normal host cell motility plays a multifaceted role in the metastasis of cancer by allowing the tumor to spread to distant organs, migrate to blood and lymphatic arteries, breach the basement membrane, and escape from the original tumor. The ability to migrate towards favourable environments is a fundamental and evolutionarily conserved cellular behaviour from unicellular organisms to humans. Both normal and cancer cells migrate using diverse modes including amoeboid, mesenchymal, epithelial, collective and individual. Simple model organisms also exhibit these diverse modes of motility and offer experimental advantages such as low cost, amenability to large-scale genetic and pharmacological screening and live imaging of cells interacting within their native environments. This article goes into detail about how drosophila can be used as a model organism to study various diseases such as Duchenne Muscular Dystrophy, Parkinsons disease, Prions diseases, Polyglutamine disorders, Huntington's disease, Machado-Josephs disease, Kennedy disease, Amyotrophic lateral sclerosis, Leigh Disease, Nieman-Pick Disease and a few rare tumours

Keywords: Drosophila melanogaster, Duchenne Muscular Dystrophy, Parkinson's disease, prion diseases, polyglutamine disorders, Huntington’s disease


How to Cite

Dsouza , K. K., Pappuswamy, M., & Chaudhary, A. (2023). Drosophila melanogaster as a Model Organism to Facilitate Rare Disease Diagnosis and Therapeutic Research. UTTAR PRADESH JOURNAL OF ZOOLOGY, 44(23), 61–77. https://doi.org/10.56557/upjoz/2023/v44i233766

Downloads

Download data is not yet available.

References

Hu J, et al. Targeting mutant for cancer therapy: Direct and Indirect Strategies. Journal of Hematology & amp; Oncology. 2021;14(1):53. DOI:10.1186/s13045-021-01169-0

SAVJV. Mechanisms of cancer resistance in long-lived mammals. Nature reviews, Cancer; 2018. Available:https://pubmed.ncbi.nlm.nih.gov/29622806/.

Garapati PV, Zhang J, Rey AJ, Marygold SJ. Towards comprehensive annotation of drosophila melanogaster enzymes in flybase. Database; 2019. doi:10.1093/database/bay144

Stuelten H, Parent CA, Montell DJ. Cell motility in cancer invasion and metastasis: Insights from simple model organisms. Nature Reviews Cancer.,2018;18(5):296–312 DOI:10.1038/nrc.2018.15

Jennings JT, Austin AD, Davies KA, Harvey MS, Hirst DB, Taylor GS. Terrestrial invertebrates. Natural History of the Riverlands and Murraylands Continued. 2009;178:306..

.What makes a model organism? – ScienceDirect

Bellen HJ, Wangler MF, Yamamoto S. The fruit flies at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet.,28(R2):R207–14.

Ahmad M, Chaudhary SU, Afzal AJ, Tariq M. Starvation-induced dietary behaviour in drosophila melanogaster larvae and adults,” Nature News; 2015. Available:https://www.nature.com/articles/srep14285).

Mirzoyan Z, et al. Drosophila melanogaster. A model organism to study cancer. Frontiers in Genetics. 2019;10. DOI:10.3389/gene.2019.00051

Mackay TFC, Huang W, Charting. The genotype–phenotype map: Lessons from the drosophila melanogaster genetic reference panel.WIREs Developmental Biology. 2017;7(1). DOI:10.1002/wdev.289

Pecorino L. Molecular Biology of Cancer. Oxford. Oxford University Press; 2016.

Alliance of Genome Resources C. Alliance of Genome Resources Portal: Unified model organism research platform. Nucleic Acids Res. 2020;48(D1):D650-D8.

Whole exome sequencing and analysis. National Institutes of Health, Available:https://www.nisc.nih.gov/docs/FAQ_whole_exome.pdf

Govind Pandey. Model organisms used in molecular biology or medical research. International Research Journal of Pharmacy; 2011.

Rahit KMTH, M. Tarailo-Graovac. Genetic modifiers and rare mendelian disease. Genes, AvailableL:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140819/

Flatt T. Life-history evolution and the genetics of fitness components in drosophila melanogaster. Genetics. 2020; 214(1):3–48. DOI:10.1534/genetics.119.300160

Yeast (Saccharomyces cerevisiae) is a good general model for the basic functions of eukaryotic cells.Yeast Systems Biology: Model Organism and Cell Factory. Available:https://onlinelibrary.wiley.com/doi/10.1002/biot.201800421.

Libretexts. Model organisms facilitate genetic advances. Biology Libre Texts. Available:https://bio.libretexts.org/Bookshelves/Genetics/Online_Open_Genetics_(Nickle_and_Barrette-Ng)/01%3A_Overview_DNA_and_Genes/1.07%3A_Model_Organisms_Facilitate_Genetic_Advances

Wu H, et al. Associations of mrna expression of DNA repair genes and genetic polymorphisms with cancer risk: A bioinformatics analysis and meta-analysis. Journal of Cancer. 2019;10(16):3593–3607 DOI:10.7150/jca.30975

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, et al. Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. Am J Hum Genet. 2019;104(3);422–38.

Duchenne muscular dystrophy - statpearls - NCBI bookshelf. Available:https://www.ncbi.nlm.nih.gov/books/NBK482346/ .

Pantoja M, Ruohola-Baker H. Drosophila as a starting point for developing therapeutics for the rare disease duchenne muscular dystrophy,” Rare diseases (Austin, Tex.), Available:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932943/ (accessed Nov. 7, 2023).

Cota-Coronado JA, et al. New transgenic models of parkinson’s disease using genome editing technology. Neurología (English Edition), Available:https://www.elsevier.es/en-revista-neurologia-english-edition--495-articulo-new-transgenic-models-parkinson-s-disease-S2173580819300768 .

Jeibmann A, Paulus W. Drosophila melanogaster as a model organism of brain diseases. International journal of molecular sciences; 2019 Available:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660653/.

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM. BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms. Am J Hum Genet. 2020;107(6): 1096–112.

Myers JA, Miller JS. Exploring the NK Cell Platform for Cancer Immunotherapy. Nature Reviews Clinical Oncology. 2020; 18(2):85–100 DOI:10.1038/s41571-020-0426-7

Zou Z, Tao T, Li H, Zhu X. MTO Rsignaling pathway and mTOR inhibitors in cancer: Progress and challenges.Cell&amp. Bioscience. 2020;10(1 DOI:10.1186/s13578-020-00396-1

Joung JK, Sander JD. Talens: A widely applicable technology for targeted genome editing. Naturereviews, Molecular cell. Biology; 2013 Available:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547402/.

Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nature Reviews Cancer. 2015 May;15(5):290-301.

PKGD. Antagomir technology in the treatment of different types of cancer. Epigenomics; 2021. Available:https://pubmed.ncbi.nlm.nih.gov/33719531/

Schutgens F, Clevers H. Human organoids: Tools for understanding biology and treating diseases. Annu Rev Pathol. 2020 Jan;24(15);211–34

Cheng Z, Li M, Dey R, Chen Y. Nanomaterials for cancer therapy: Current progress and perspectives. Journal of Hematology & amp; Oncology. 2021;14(1) DOI:10.1186/s13045-021-01096-0

Xiao Y, Yu D. Tumor microenvironment as a therapeutic target in cancer. Pharmacology & amp; Therapeutics. 2021; 221;107753. DOI:10.1016/j.pharmthera.2020.107753

Braicu et al. A comprehensive review on MAPK: A promising therapeutic target in cancer.Cancers. 2019;11(10):1618. DOI:10.3390/cancers11101618

Clark JF, Dinsmore CJ, Soriano P. A most formidable arsenal: Genetic technologies for building a better mouse. Genes Dev. 2020;34(19–20):1256–86.

Bamshad MJ, Nickerson DA, Chong JX. Mendelian gene discovery: Fast and furious with no end in sight. Am J Hum Genet. 2019 Sep 5;105(3):448– 55.

Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In vivo functional study of disease-associated rare human variants using Drosophila. J Vis Exp. 2019;(150).

Dietrich MR, Ankeny RA, P. M. Chen. Publication trends in model organism research.Genetics. 2014;198(3);787–794 DOI:10.1534/genetics.114.169714

Bellen HJ, Hubbard EJA, Lehmann R, Madhani HD, Solnica-Krezel L, Southard-Smith EM. Model organism databases are in jeopardy. Development (Cambridge, England) Available:https://pubmed.ncbi.nlm.nih.gov/35231122/.

Edison AS, et al. The time is right to focus on model organism Metabolomes.MDPI., Available:https://www.mdpi.com/2218-1989/6/1/8.

Rine J, Mar. A future of the model organism model. Molecular Biology of the Cell. 2014;25(5):549–553. DOI:10.1091/mbc.e12-10-0768

YM, YH. Drosophila Models for Human Diseases. Advances in Experimental Medicine and Biology. Springer, Singapore.1076;28AD.