Question

What are some diseases that can result from an error in human transcription? Please list at least 4

Answer 1

Diseases caused due to generation of defective proteins because of mutations occurs in the transcript this is called transcription error.They may be hereditary or non-hereditary.There are some of the disease listed below

1.   Crohn's disease: It is also called inflammatory bowel disease (IBD) .It is due to multigene defect e.g ATG16L1, IL23R, NOD2, XBP1.But main cause of the disease is frameshift mutations in the NOD2 gene and point mutation in the XBP1 gene .XBP1 gene works in unfolding pathways in endoplasmic reticulum.In this disease the target part would be gastrointestinal tract. symptoms often include abdominal pain, diarrhea, anemia, tiredness, skin rashes, inflammation of the eye,and arthritis
2.   Cystic fibrosis: Disease is caused due to mutation at 508 position in the cystic fibrosis transmembrane regulator (CFTR) gene.Deletion of three nucleotide complimentary to the amino acid phenylalanine. CFTR is a ATP dependant calcium channel.It helps in regulating sweat, digestive juices, and mucus.
3.   Phenylketonuria: It is an inborn disorder.In this disease phenylalanine hydroxylase(PAH) enzyme gene is mutated, it is non functional in converting amino acid phenylalanine to tyrosine.It leads to metal disorder,low body weight,heart problems.
4.   Parkinson's disease: It is a neurodegenerative disorder.It is also multi-gene mutation disorder.Most common gene effected in this disease is SNCA and GBA.mutaion in SNCA gene give rise to accumulation on alpha synuclein in brain.This disease is also associated with lysosomes dysfunctioning lost its ability to break synuclein.
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