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New research sheds light on the role of our molecular recycling centres in genetic diseases and male infertility

October 2, 2011

New research led by Dr. Nongnuj Tanphaichitr is shedding light on a family of genetic diseases that occur when our cellsí recycling centres, known as lysosomes, clog up with molecular waste. While the symptoms of these diseases have mainly been described in the brain, Dr. Tanphaichitr and her colleagues have discovered that there are also negative effects on sperm production. In particular, they show that in a mouse model of one of these diseases, seminolipid waste builds up in certain reproductive cells in the testes and this almost completely blocks fertilizing ability. This research, which is featured on the cover of the Journal of Lipid Research, could lead to new insights into a number of genetic diseases as well as male infertility.

This research was supported by the Canadian Institutes of Health Research, an Ontario Graduate Scholarship and a Development and Promotion of Science and Technology Talented Project Scholarship of Thailand. All research at OHRI is also supported by The Ottawa Hospital Foundation.