Trisomy 21 causes an overdose of mRNA and proteins that dysregulate the cellular functions of the affected individual. The researchers then observed a cellular mechanism for self-regulating protein production, which was capable of counteracting an unusual overabundance of proteins.
What do the proteins in chromosome 21 do?
The normal RUNX1 protein, produced from the RUNX1 gene, is part of a protein complex called core binding factor (CBF) that attaches (binds) to DNA and turns on genes involved in blood cell development. The normal ETO protein, produced from the RUNX1T1 gene, turns off gene activity.
What protein does Down syndrome make?
The gene for the beta-amyloid precursor protein that is cut to make beta-amyloid protein is on chromosome 21, which is present in triplicate in most people with Down syndrome.
Can Down syndrome be prevented?
There’s no way to prevent Down syndrome. If you’re at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant. A genetic counselor can help you understand your chances of having a child with Down syndrome.
What happens if you are missing chromosome 21?
The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 21q deletion include developmental delay , intellectual disability , behavioral problems, and distinctive facial features.
Is Down syndrome a disability?
Down syndrome is the most frequent chromosomal cause of mild to moderate intellectual disability, and it occurs in all ethnic and economic groups. The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate.