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Iron buildup in brain linked to higher risk of movement disorders

Iron buildup in brain linked to higher risk for movement disorders
In these brain scans, the blue areas represent individuals with two copies of hemochromatosis Regional risk genes for iron accumulation in China. These areas also play a role in movement. Credit: UC San Diego Health Sciences

A condition called hereditary hemochromatosis, caused by genetic mutations that cause the body to absorb too much iron, leading to tissue damage and conditions such as liver disease, heart disease and diabetes. However, few conflicting studies have previously shown that the brain is not protected from iron accumulation by the blood-brain barrier, a network of blood vessels and tissues made up of closely spaced cells that prevent invasive Pathogens and toxins.

But published in the online issue on August 1, 2022

In a new study JAMA Neurology , researchers at UC San Diego, in collaboration with UC San Francisco, Johns Hopkins Bloomberg Public Together with colleagues from the School of Health and the Laurel Institute for Brain Research, report that individuals with two mutated copies of the gene (one inherited from both parents) showed evidence of substantial iron accumulation in brain regions responsible for movement.

The findings suggest that genetic mutations that primarily cause hereditary hemochromatosis may be risk factors for developing movement disorders, such as par Kinson’s disease, which is caused by the loss of nerve cells that produce the chemical messenger dopamine.

In addition, researchers found that carriers of two Males of European ancestry with mutations in this gene are at greatest risk;

“Sex-specific effects consistent with other secondary hemochromatosis, said first author Robert Lornan, Ph.D., a postdoctoral scholar in the Laboratory of Population Neuroscience and Genetics at UC San Diego. “Men have a higher burden of disease than women due to natural processes such as menstruation and childbirth.”

According to the Centers for Disease Control and Prevention. The scans detected large deposits of iron in the motor circuits of the brains of these high-risk individuals.

The researchers then analyzed a group representing nearly 500,000 men (but not women) who were found to be at genetic risk for hyperchromatosis There was a 1.80-fold increased risk of developing dyskinesia, many of whom had no concurrent diagnosis of hemochromatosis.

“We hope our research will shed more light on hemochromatosis, as many at-risk groups are unaware They have abnormal levels of iron in their brains,” said senior corresponding author Chun Chieh Fan, MD, assistant adjunct professor at UC San Diego and principal investigator at the Laureate Brain Institute in Tulsa, Oklahoma. “Screening high-risk populations for early detection may help determine when to intervene to avoid more serious outcomes.”

Loughnan said the findings have immediate clinical implications because safe and approved treatments already exist to reduce excess iron caused by genetic mutations. In addition, the new data may shed more light on how iron accumulates in the brain and increases the risk of movement disorders.

About 60,000 Americans are diagnosed with Parkinson’s disease each year, 60% of whom are men. Late-onset Parkinson’s disease (after age 60) is the most common, but incidence is rising in young adults.

More Broadly speaking, an estimated 42 million people in the United States suffer from some form of exercise Disorders such as essential tremor, dystonia, and Huntington’s disease.

Co-authors include: Jonathan Ahern, Cherisse Tompkins, Clare E. Palmer, John Iversen, Terry Jernigan and Anders Dale, all at UC San Diego; Ole Andreassen, University of Oslo, Norway; Leo Sugrue, UC San Francisco; Mary ET Boyle, UC San Diego and Johns Hopkins Bloomberg School of Public Health; and UC San Diego and Lowry Wesley K. Thompson of the Special Brain Institute.

Further information: Robert Loughnan et al. Genetic variants associated with hemochromatosis and iron and dyskinesias Association of Brain Magnetic Resonance Imaging Measurements, JAMA Neurology (2022). DOI: 10.1001/jamaneurol.2022.2030

Citation : Iron buildup in the brain is associated with higher risk of movement disorders ( August 1, 2022), retrieved August 26, 2022, from

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