Research: Gene mutation causes eye disease glaucoma

It is a mutation in a gene that causes the eye disease glaucoma, according to collaborative research conducted by Swedish, Tunisian, and American researchers. The findings were recently published in the journal Nature Genetics.

The most common form of glaucoma, so-called open-angle glaucoma, is a disease that afflicts more than 16 million people in the world. The nerve fiber layer of the optic nerve slowly withers, leading to a deterioration of wide-angle vision and ultimately to serious vision impairment.

It was previously believed that glaucoma is caused by elevated pressure in the eye. But now Peter Söderkvist and Mounira Hmani-Aifa at the Faculty of Health Sciences, Linköping University, Sweden, in collaboration with Tunisian and American researchers, have managed to identify the pathogenic gene PRSS56, which is a serine protease. However, it remains unclear which protein(s) is the substrate for PRSS56.

The scientists studied Tunisian families who have been afflicted with both glaucoma and microphthalmia, diminished eyeballs, and in this work they managed to identify the gene that is mutated and causes the disease. The American research team participating in this collaboration identified an altered version of the gene in a mutagenesis screen in mice, selected for glaucoma.

Comments

  1. Tom Hennessy Tom Hennessy Canada says:

    Marijuana is used to treat glaucoma.
    Marijuana increases acetylcholine in the body.
    Drugs which raise acetylcholine are used to treat glaucoma.

    "Effects of cannabinoids on levels of acetylcholine and choline and on turnover rate of acetylcholine in various regions of the mouse brain."
    "Cannabinoids increase ACh and decrease ACh turnover ."

    "Cholinergic drugs are also used in control of glaucoma"
    "cholinergic drug (drug), any of various drugs that inhibit, enhance, or mimic the action of the neurotransmitter acetylcholine"

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