Tuesday, February 22, 2005

NF2 Genetic viewpoint links

Some links to research works related to NF2 from Genetics point of view:

(If you know of links that can be put up here, please suggest. You can leave them as comments)

Study: ringing in ears could be linked to eyes

Neurofibromatosis: A New Model for Merlin Localization and Function

Posted February 11, 2005

Wallace Ip, Ph.D., University of Cincinnati College of Medicine, Ohio

NF2, an inherited disorder that affects 1 in 40,000 individuals, is characterized by the formation of bilateral schwannoma of the 8th cranial nerve and predisposition to other nervous system tumors. NF2 is caused by mutations in a tumor suppressor gene called merlin, a member of a family of proteins that bind to the structural support network in cells (known as the cytoskeleton). Recent work by Dr. Wallace Ip at the University of Cincinnati College of Medicine, a recipient of an FY02 NFRP Idea Award, provides new insight into merlin localization and function. Dr. Ip's group demonstrated that most merlin within cells is attached to specialized areas of the cell membrane called lipid rafts. His data also suggest that merlin activation is accompanied by dissociation of merlin-containing lipid rafts from the cytoskeleton. Merlin is the first tumor suppressor to be localized to lipid rafts, which contain a high concentration of signaling molecules that regulate cell growth. These findings suggest that the ability of merlin to disrupt growth-promoting signaling pathways originating from the cell membrane may be dependent on its association with the rafts. Future studies will examine whether mutant merlin proteins modeled after mutations known in NF2 patients are defective in lipid raft targeting and whether forced localization of the mutant proteins to lipid rafts can restore normal function. Dr. Ip's research may provide explanations for the loss of function associated with some merlin mutations and ultimately help investigators develop new therapeutics for the affected individuals.

Publications:

Stickney JT, Bacon WC, Rojas M, et al. 2004. Activation of the tumor suppressor merlin modulates its interaction with lipid rafts. Cancer Research 64:2717-2724.

Wednesday, February 16, 2005

Seventh medical opinion saved eye of 3-year-old

• Six hospitals make faulty diagnosis of Ramamurthy’s eye disease — mistakes Embryonal Rhabdomyosarcoma for incurable tumour.
• With little money to remove Ramamurthy’s eye, the helpless parents wait to see their only child breathe his last.
• A free medical camp at Basaveshwaranagar breathes new life into the parents — not just that the tumour could be removed, but the boy could see as well.
• After three months of suffering and endless hospital visits, the boy is promised cure and that with a few locally available drugs.
• Ramamurthy’s treatment is on. A philanthropist comes forward to sponsor the complete treatment expenses — around Rs 3 lakh.

From The Times of India; dtd 16 Feb 2005; Bangalore edition

Bangalore: Seeking a second opinion on matters of health is nothing new. But in the case of three-year-old Ramamurthy, it was the seventh round of opinion that saved his eye.
Six hospitals, including three premier hospitals for ophthalmology and oncology, had made faulty diagnosis of a rare kind of eye cancer — Embryonal Rhabdomyosarcoma or EB — suggesting the only way to save the little boy was removing his eye. But after three months of suffering and endless hospital visits, he is finally promised cure, and that with a few locally available drugs.
Ramamurthy, the only child of a gardener from Jalahalli, developed some irritation in his right eye last December. Before his illiterate parents could realise what had happened, the boy’s eye ball had swollen up into the size of a cricket ball with the cornea grossly popping out. Within a fortnight, he turned blind.
Doctors across six hospitals saw a malignant tumour in the eye and recommended removing Ramamurthy’s eye to save his life. But after almost a month of endless hospital visits, his helpless parents decided to return home. “If Ramu had to be saved, his eye had to be removed, but mobilising funds to remove his eye was an impossible task. It was as if we were waiting to see our only child breathe his last,’’ Ramamurthy’s father recalled.
In fact, it was a free surgical and medical camp organised by the Bhagwan Mahaveer Jain Hospital at Basaveshwaranagar that breathed new life into Ramamurthy and his parents. At the camp, doctors declared that the tumour could be removed and the boy will regain his sight.
Diagnosing it as EB, a type of cancer that occurs in less than three per cent of cancer cases among children, doctors established that the tumour would be highly responsive to chemotherapy and radiotherapy with excellent prognosis rate.
Ramamurthy’s treatment is on. Philanthropist Mohan Lal Ranka has offered to sponsor the expenses which amount to about Rs 3 lakh. “Right diagnosis of a rare disease may still be a challenge, but there is dire need for doctors to work up cases. The boy would have lost his eye for nothing. Worse, the boy would have lost his life as the parents helplessly let the tumour grow without treatment,” said hospital CEO Dr Kishore Murthy.


(Will post link shortly)

NF2 Research: Honing the Proteome

Honing the Proteome
by Eric Schoch

As many as 150,000 Americans, and countless thousands more people around the world, struggle with neurofibromatosis, which causes tumors to grow on nerve tissue. It's the most common disease caused by the mutation of a single gene and can leave people disfigured, in pain, blind, deaf, or struggling with malignancies.

Except for surgery to remove threatening tumors, there is no treatment, there is no cure.

Wade Clapp, associate professor of pediatrics and of microbiology and immunology, and his colleagues at the Indiana University School of Medicine are working to change that. One of their areas of focus is the mast cell, an immune system component that appears to stimulate the growth of the tumors by secreting protein messengers.

Read on