CHILDHOOD ONSET NEURODEGENERATIVE DISEASE WITH CEREBRAL ATROPHY
It is a serious neurological disease that affects children between the ages of 2 and 7.
It is a brain disease characterized by normal development during the first two years of a child's life. Around the age of two and a half, a regression in motor and cognitive development is identified, including difficulty in walking and speaking.
By the age of 15-20, the child loses motor function, the ability to eat independently and becomes totally dependent.
It is a sad disease: children who regularly develop for several years of their life like other children, one day will begin to no longer be able to pronounce the words they could use, before losing the ability to walk. From developed and functioning children, they gradually become children with a profound inexplicable intellectual disability and, as the years go by, reach a state of breastfeeding.
CONDBA E210K – UBTF
The UBTF gene encodes a protein that is essential for the transcription of important genes. Transcription is the process where a part of the cellular DNA is copied to an RNA, which then proceeds to the ribosome to produce a protein. One mutation in the UBTF gene, E210K, causes the protein it encodes to become pathologically efficient, resulting in increased activity of RNA polymerase I and higher production of the ribosomal RNA inside the cells. Recent studies have shown that this excess ribosomal RNA production leads to excessive protein production and is destructive to cells, as it results in accumulating damage to the DNA, damage to the ribosomes that produce the cellular proteins, and eventually, cellular death.
Only a few studies have explored the progression of CONDBA and attempted to unveil its mechanism(s) of action. These studies include investigating fibroblast cells collected from patients and magnetic resonance imaging (MRI) studies to identify the degeneration process and death of brain cells. While the UBTF mutation is ubiquitously expressed throughout all the cells of the body, the vulnerability of different tissues and systems is not yet fully understood, neither the pattern of progression nor it’s pathophysiology.
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