Hereditary hemochromatosis caused by a gene mutation causes the body to absorb too much iron, leading to tissue damage such as liver and heart disease and diabetes. Although relevant studies are rare and mixed, existing studies have suggested that iron does not accumulate in the brain because it is filtered through the blood-brain barrier. The blood-brain barrier is a network of blood vessels and tissues that prevents harmful substances from entering the brain.
However, according to a joint research team at the University of California, San Diego (UC San Diego) and Johns Hopkins University, people with two copies of the gene mutation show evidence of significant iron accumulation in areas of the brain responsible for movement. The results of this study suggest that gene mutations that mainly cause hereditary hemochromatosis may be a risk factor for movement disorders such as Parkinson’s disease. Parkinson’s disease is caused by the loss of nerve cells that produce the chemical messenger dopamine.
This observational study found that men were at higher risk, while women were not. “Gender differences are consistent with other secondary disorders of hemochromatosis,” said first author Dr. Robert Loughnan, UC San Diego. This is because the accumulated iron is discharged.”
The research team performed MRI scans of 836 people. Of these, 165 were at high risk for hemochromatosis, and the scans found significant iron deposits in their brain motor circuits.
Then, as a result of analyzing data representing regarding 500,000 people, men at high risk for hemochromatosis had a 1.80-fold increase in the risk of movement disorders. Many of these people had not been diagnosed with hemochromatosis.
“Many high-risk individuals are unaware of the abnormal accumulation of iron in their brains, so we hope our study can raise awareness of hemochromatosis,” said UC San Diego’s corresponding author, Prof. Chen Chii Pan. “Identifying high-risk individuals for early detection of the disease can help determine when to intervene to avoid more serious consequences,” he added.
Dr. Lofnan said the findings might be immediately clinically applied because there are approved treatments for reducing iron overload caused by gene mutations. The new data might also lead to further discoveries regarding how iron accumulates in the brain and increases the risk of movement disorders.
The study was published in the online edition of JAMA Neurology. The original title is ‘Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders’.
Reporter Lee Bo-hyun [email protected]
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