WHAT IS VHL?


Like the Rb tumor suppressor gene, VHL seems to act as a 'gatekeeper' to the multistep process of tumorigenesis. Although unrelated to any other known family of human proteins, homologs to human VHL are found in mice and rats. Experiments using these animals as model organisms for the human disease are helping researchers discover the normal physiological role of VHL, which will through light on its mechanism of pathogenesis. Initial results suggest that VHL may play a role in regulating exit from the cell cycle.

The VHL Family Alliance began as a support group in the United States in 1993 with just three members. Today that number has risen to over 2500 volunteers, physicians and scientists spanning the globe. Our Canadian affiliate became a charitable organization in 1998 with only three members. Today, our membership database in Canada tops 125. The Board consists of six members, and three Chapter Chairs, all of whom are volunteers..

The gene for Von-Hippel Lindau disease (VHL) is found on chromosome 3, and is inherited in a dominant fashion. If one parent has a dominant gene, each child has a 50-50 chance of inheriting that gene. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop uncontrolled growth and proliferation. If the gene is lost or mutated, then its inhibitory effect on cell growth is lost or diminished, which, in combination with defects in other regulatory proteins, can lead to cancerous growth. Like the Rb tumor suppressor gene, VHL seems to act as a 'gatekeeper' to the multistep process of tumorigenesis. Although unrelated to any other known family of human proteins, homologs to human VHL are found in mice and rats. Experiments using these animals as model organisms for the human disease are helping researchers discover the normal physiological role of VHL, which will through light on its mechanism of pathogenesis. Initial results suggest that VHL may play a role in regulating exit from the cell cycle.

Please visit http://www.vhl.org/polmontreal/index.html to read about an extraordinary man, Paul Bonneau and his journey through his illness and his wonderful adventure on a European voyage