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He continued to explain that this protein's purpose is not known for sure, but it appears to be involved with hearing. Some studies suggest that sterocilin seems to be related with stereocila, which are formations similar to tiny hairs inside the ear. These turn sound vibrations into electrical impulses that get sent to the brain.
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Because of this, a lack of stereocilin may not allow stereocila to function properly, leading to hearing loss. After he finished his explanation he brought in a few chairs for the parents before they began to ask questions.
The doctor politely replied that this disorder is inherited in an autosomal recessive pattern, which means that each of them had a copy of the gene coding for this disorder but did not express the trait because it was overshadowed by the dominant one. Since the disorder was inherited, it was present at birth which classifies it as congenital.
How could Jo-jo have gotten this genetic disorder from us? My husband and I can hear just fine.
"His speech may be muffled in the future. Because you caught it quite early it wont be affected severely. His language development will be slower, and things like this could lead to him isolating himself from social situations and conversation." The doctor replied. "Its something we see quite often."
What are some other symptoms Jo-jo could have besides a loss of hearing?
"Actually, yes, I just did some research on a drug that was tested on deaf mice and had successful results. It obstructed the expression of a protein called notch, and allowed the cells in the inner ear to communicate. It also kept an enzyme, gammasecretase from performing chain reactions in the cells it was treated on" The doctor paused and then continued,
Is there any new research being done on this disorder?
"When tested on the inner ears of deaf mice the supporting cells themselves turned into stereocilla cells. this drug was known to regenerate seterocilla cells when isolated and added to stem cels but never on a multicellular organism before, so it is really quite remarkable."
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