In ability to process manganese linked to scoliosis

October 10, 2018

Researchers have linked scoliosis, a curvature of the spine, to the body’s inability to appropriately handle manganese.

The study at Washington University School of Medicine in St. Louis found children with severe scoliosis are twice as likely to carry a gene variant that makes it difficult for their cells to take in and use manganese – an essential dietary mineral for growing bones and cartilage – compared to children without the disease. The findings were published in the journal Nature Communications.

“Our goal in studying the genetics of this disorder was to see if there was anything we could learn that might change how we treat patients,” said senior author Dr. Christina Gurnett, a professor of neurology, orthopedic surgery, and pediatrics at Washington University.

“And we came across this gene variant that affects the level of manganese in the body. That tells me maybe we should start thinking about studying nutritional treatments for some children at risk.”

“Our study links a common disease — scoliosis — to something that’s potentially modifiable in the diet,” Gurnett continued.

“But we don’t want people to go out right now and start manganese supplements, because we already know that too much manganese can be harmful.”

Scoliosis affects 2-3% of the US population and mainly develops in children 10-15 years old, according to the American Association of Neurological Surgeons.

Most new cases of scoliosis are mild and require only that doctors keep an eye on the condition. Once they develop a moderate bend to their spine, they may need to wear a back brace until they finish growing. In certain cases, surgery may be required.

Although cases of scoliosis tend to cluster in families, the researchers felt many different genes play a small role in increasing the risk of the disease.

The researchers scanned all the genes in 457 children with severe scoliosis and 987 children without the disease and found a variant in the gene SLC39A8 was found in only 6% of the healthy children but 12% of the children with severe scoliosis.

A second analysis of a separate group of 1,095 healthy children and 841 children with moderate to severe scoliosis confirmed the findings. Children with scoliosis were about twice as likely to carry the variant.

“The genetic variant does not stop the gene from working entirely, it’s just not working optimally,” first author Dr. Gabriel Haller said.

“So maybe most people need a certain level of manganese in their blood, but if you have a bad gene variant like this one, you need more.”

In a supporting study, when researchers bred zebrafish with a disabled SLC39A8 gene, they developed movement and skeletal abnormalities, including curves in their spines.

“We’ve started doing these studies in zebrafish by adding manganese to their water,” Gurnett said.

“But we still need to do human studies to figure out how much exactly is both safe and effective.”

High doses of manganese can cause manganism, which is a permanent neurological condition characterized by tremors and difficulty walking, as well as psychiatric symptoms that include aggression and hallucinations. Manganism has also been linked to Parkinson’s disease, schizophrenia and high blood pressure.

On the other hand, a manganese deficiency can result in problems metabolizing fat and sugar, impaired growth, difficulty walking and curvature of the spine, according to animal studies. But it’s rarely seen in people because the human body needs only trace amounts, which are obtained from food.

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