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From studies published so far, there does not seem to be a specifically higher prevalence of any cancer associated with mutations in specific exons.
Later studies added support to the idea that cancer is a result of mutations in specific cells.
But scientists are also starting to find cases in which mutations in specific cells help give rise to diseases other than cancer.
For example, cardiologists would be delighted to have human cardiomyocytes in culture bearing mutations in specific ion channels.
Currently 90% cases are sporadic whereas up to 10% are hereditary and likely due to germ-line mutations in specific genes.
It has been recognized that genetic mutations in specific nucleotides may give rise to cancer via the alteration of signaling pathways.
Knockout and transgenic models have provided proof of concept that mutations in specific podocyte proteins mediate genetic forms of focal segmental glomerulosclerosis.
Genomic and proteomic approaches have presently identified eight different forms of NCL (namely, CLN1 through CLN8) based on mutations in specific genes.
But the idea fell out of fashion as researchers began to discover that mutations in specific oncogenes and tumor-suppressor genes could set cancer in motion.
CRISPR can be used to make double strand breaks in genomic DNA to induce mutations in specific gene targets, including knockout mutations or more specific gene engineering (knock-in).
But what will the victims--actual or potential--of genetic diseases have to contend with now that the causes of many such diseases are being pinpointed to specific mutations in specific genes?
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com