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About time we moved on in the Chromosome Parade to chromosome 7. The disease gene I’d like to learn more about today is the dihydrolipoamide dehydrogenase (DLD) gene associated with maple syrup urine disease. The DLD gene creates a protein that is part of an enzyme complex which breaks down molecules in the mitochrondria.
Most DLD […]
Chromosome 6 is in focus today as the chromosome parade continues on its way. Among the 1,100 to 1,600 genes on the chromosome is the polycystic kidney and hepatic disease 1 (autosomal recessive) gene also known as the PKHD1 gene at location 6p12.2. Normally, the PKHD1 gene encodes the fibrocystin protein that plays a role […]
The Chromosome Parade has been slow but it’s still chugging on; stopping today at the synuclein, alpha interacting protein (synphilin) gene (SNCAIP) on chromosome 5. One specific mutation in the SNCAIP gene has been associated with Parkinson Disease.
Because the Arg621Cys mutation has been reported in so few cases, it is unclear whether the mutation affects […]
The chromosome parade moves along today to chromosome 4 and the huntingtin gene (HD gene) for Huntington disease on 4p16.3. Huntington disease is a “progressive brain disorder that causes uncontrolled movements, mental and emotional problems, and loss of thinking ability (cognition).”
The inherited mutation in the HD gene that causes Huntington disease abnormally repeats the CAG […]
Third up in the Genetics and Health chromosome parade is #3 and the gene in focus is Usher syndrome 3A (USH3A). USH3A plays a role in normal vision and hearing, specifically in the synapses between the nerve cells in the inner ear and retina.
What conditions are related to the USH3A gene?
Usher syndrome type III […]
Marching in our chromosome parade today is chromosome #2 and the gene that’s sitting on the float in the seat of honor is the ectodysplasin A receptor (EDAR) gene involved in determining the formation of body tissues that develop from the ectoderm - skin, hair, nails, and sweat glands. As many as 20 mutations […]
Every Saturday, I’m planning to highlight a disease gene on each of the 24 human chromosomes: 1-22, X, and Y. My resource will be the Genetics Home Reference and I’ll choose whatever catches my eye for the chromosome of the week.
This week, I’m checking out the PSEN2 gene on the long arm of chromsome […]
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