What are the common diseases associated with gene rearrangements?
Common diseases associated with gene rearrangements include various types of cancer, such as leukemia, lymphoma, and some solid tumors. These rearrangements can also lead to genetic disorders like congenital immunodeficiencies and some types of developmental syndromes.
How do gene rearrangements affect cancer development?
Gene rearrangements can activate oncogenes or inactivate tumor suppressor genes, leading to uncontrolled cell growth. They can result in the production of fusion proteins or abnormal gene expression, contributing to cancer progression. Chromosomal translocations are a common type of gene rearrangement seen in various cancers. These genetic alterations can influence cancer diagnosis, prognosis, and treatment strategies.
How are gene rearrangements detected in genetic testing?
Gene rearrangements are detected using techniques like fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and next-generation sequencing (NGS). These methods allow the identification and characterization of specific genetic changes, including insertions, deletions, inversions, and translocations in DNA.
What role do gene rearrangements play in inherited genetic disorders?
Gene rearrangements can disrupt normal gene function, leading to inherited genetic disorders by altering gene expression, creating fusion genes, or interrupting coding sequences. These rearrangements can cause conditions like cystic fibrosis or certain congenital heart defects, impacting protein production and cellular functions crucial for normal development and health.
Can gene rearrangements be targeted with specific therapies?
Yes, gene rearrangements can be targeted with specific therapies. Targeted therapies like tyrosine kinase inhibitors are designed to target specific rearranged genes or their products in cancers, such as BCR-ABL in chronic myeloid leukemia and ALK or ROS1 rearrangements in non-small cell lung cancer, improving treatment outcomes.