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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
The choroid plexus regulates the production and composition of cerebrospinal fluid (CSF), that provides the protective buoyancy for the brain. [2] [10] CSF acts as a medium for the glymphatic filtration system that facilitates the removal of metabolic waste from the brain, and the exchange of biomolecules and xenobiotics into and out of the brain.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
A number of online neuroscience databases are available which provide information regarding gene expression, neurons, macroscopic brain structure, and neurological or psychiatric disorders. Some databases contain descriptive and numerical data, some to brain function, others offer access to 'raw' imaging data, such as postmortem brain sections ...
The winners of the 2024 European Wildlife Photographer of the Year awards have been announced. Launched in 2001, this competition is one of the most prestigious in modern nature photography. This ...
By projecting all three images onto a screen simultaneously, he was able to recreate the original image of the ribbon. #4 London, Kodachrome Image credits: Chalmers Butterfield
Credit - Denis Novikov—iStock/Getty Images. I f you’ve been scrolling too long on social media, you might be suffering from “brain rot,” the word of 2024, per the publisher of the Oxford ...