Some muscular dystrophy patients at increased risk for cancer

People who have the most common type of adult muscular dystrophy also have a higher risk of getting cancer, according to a paper published today in the Journal of the American Medical Association.

The team found that patients who have myotonic muscular dystrophy are at increased risk primarily for four types of cancer: brain, ovary, colon, and the uterine lining known as the . The team also found a possible increased risk for some other , including cancer of the eye, thyroid, pancreas, and other female reproductive organs.

Physicians estimate that approximately 40,000 Americans have myotonic dystrophy, an inherited disease that is marked by . While the course of the disease varies from patient to patient, symptoms can include , difficulty speaking and swallowing, problems walking, and in some patients, and cataracts.

like study author Richard T. Moxley, M.D., of the University of Rochester Medical Center have long known that patients with myotonic dystrophy are at greater risk of a rare type of skin growth, and they know that occurs more often as well in some families with the disease. Moxley teamed with cancer experts at the National Cancer Institute as well as scientists in Sweden and Denmark to study the link between muscular dystrophy and cancer more closely.

The team used detailed registries about the health of people with myotonic dystrophy to look closely at the records of 1,658 patients. Among that group, 104 people developed cancer – twice the number of cases that would be expected in the overall population.

"Our findings suggest that patients with myotonic dystrophy need to be absolutely vigilant about cancer screening, particularly colon cancer screening," said Moxley, director of the University's Neuromuscular Disease Center and professor of Neurology. Moxley also heads the University's Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, one of six research centers funded by the National Institutes of Health.

Over the last 15 years, Moxley's colleague, Charles Thornton, M.D., has discovered how the genetic flaw at the root of myotonic muscular dystrophy – a genetic repeat, a kind of molecular stutter – actually causes the disease. He found that the flaw causes extra messenger RNA to accumulate in the nucleus of cells, making it difficult for a protein crucial for normal muscle growth to do its job.

Moxley notes that the genetic miscue that causes the disease is one that might also make cancer more likely to occur. The investigators say it's possible that the extra RNA may also hinder proteins involved in repairing DNA; a malfunction of DNA repair machinery is one way that cancer comes about. In addition, they note that the product made by the faulty gene is a close molecular relative of several cancer susceptibility genes.

The scientists say much more study is needed to understand the process. They plan to study the issue in more depth using a muscular dystrophy registry which includes about 1,600 patients with that has been compiled by Moxley and colleagues at Rochester, thanks to funding from the National Institutes of Health.

More information: JAMA. 2011;306[22]:2480-2486.

Related Stories

Researchers reverse key symptom of muscular dystrophy

Nov 15, 2007

Researchers at the University of Rochester Medical Center have identified a compound that eliminates myotonia – a symptom of muscular dystrophy – in mice. The study was published online today in the Journal of Clinical In ...

Recommended for you

Dengue fever strikes models in Japan

11 minutes ago

A worsening outbreak of dengue fever in Japan has claimed its first celebrities—two young models sent on assignment to the Tokyo park believed to be its source.

Japanese researchers develop 30-minute Ebola test

12 minutes ago

Japanese researchers said Tuesday they had developed a new method to detect the presence of the Ebola virus in 30 minutes, with technology that could allow doctors to quickly diagnose infection.

Senegal monitors contacts of 1st Ebola patient

12 hours ago

Senegalese authorities on Monday were monitoring everyone who was in contact with a student infected with Ebola who crossed into the country, and who has lost three family members to the disease.

Cerebral palsy may be hereditary

18 hours ago

Cerebral palsy is a neurological developmental disorder which follows an injury to the immature brain before, during or after birth. The resulting condition affects the child's ability to move and in some ...

19 new dengue cases in Japan, linked to Tokyo park

Sep 01, 2014

Japan is urging local authorities to be on the lookout for further outbreaks of dengue fever, after confirming another 19 cases that were contracted at a popular local park in downtown Tokyo.

User comments