Neurofibromatosis: From Genes to Complications to Treatments

The 2008 NF Conference was held last weekend (June 6 — 10) in Bonita Springs, Florida. The preeminent annual meeting provides a forum for basic and clinical neurofibromatosis (NF) investigators to present their research (pronounced noor-oh-fahy-broh-muh-toh-sis). The conference was attended by over 200 researchers from around the world


This year’s theme — Genes to Complications to Treatments — highlighted the progress being made in NF research and clinical care, as well as the research programs of the Children’s Tumor Foundation. Last year’s NF Conference focused on models, mechanisms and therapeutic targets.

Novel Gene Suppresses Tumor Growth in Multiple Cancers

A novel gene was discovered recently that suppresses the growth of human tumors in a number of different cancers. The study, published in the journal Nature Medicine, found that the gene HACE1, an acronym for HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1, is able to help cells deal with various forms of stress that cause tumor formation [1].

Neurofibromatosis and The Children’s Tumor Foundation

The annual Children’s Tumor Foundation NF Conference was held in Park City, Utah earlier this week (June 10 — 12). For three days, research and clinical investigators from around the world met to present their data and discuss the latest findings in neurofibromatosis (NF) research (pronounced noor-oh-fahy-broh-muh-toh-sis). This year the meeting focused on models, mechanisms and therapeutic targets.

The Children’s Tumor Foundation is dedicated to ending NF through research. The Foundation has sponsored research for over 25 years to understand the molecular basis of NF and to establish effective treatments and improve the lives of those living with the disease.

Tumor Suppressors and Oncogenes

The cell cycle is a series of ordered events that occur in a cell between it’s initial formation and eventual duplication and division into two daughter cells. Cells in the human body normally reproduce up to ~50 times [1], doubling their number with each cell cycle. Stem cells provide a pool of dividing cells to replace those that have died.

Interphase, the period between cell divisions, is where most cells remain for at least 90% of the cell cycle. Interphase consists of three phases: G1 (for gap 1), S phase (for synthesis) and G2 (for gap 2). During G1, the cell undergoes rapid growth and metabolic activity, including production of RNA and synthesis of protein. For the cell to divide and produce an identical copy of itself, its genome must be duplicated. DNA replication occurs in S phase. During G2, cell growth continues and the cell prepares for division. Cell division or mitosis occurs in M phase.

In normal cells, during G1 there are specific genes that control the speed of the cell cycle. These genes, called tumor suppressors and oncogenes, are mutated (meaning damaged) in cancer cells and can result in uncontrolled reproduction. Additionally, unlike normal cells, cancer cells do not stop reproducing after ~50 divisions. Thus, a cancer is an uncontrolled proliferation of cells.