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Scientists Identify New Genetic Mutation Behind Common Dementia

cally distinct diseases that appear almost identical," Dr. Bruni said.

The researcher, however, said that the Italian family did not have any cases with two copies of the mutated gene.

"We would have expected to see cases with two copies of the mutated gene, especially since this family shares much of the same genetic material, as there have been at least five marriages between first cousins over the years," Dr. Bruni said.

"It's possible that loss of both copies of the progranulin gene leads to the death of embryos, and that's why there were no cases with two copies of the mutated gene," the researcher added.

The researchers are now planning to conduct a study to identify the modifying factors responsible for the severity of the disorder, and to identify the second gene responsible for dementia in the same family.

"Another intriguing aspect in this Italian family is the variable age at onset, which ranged from 35 to 87 years in the family members who inherited the same mutation. Our future research will try to identify the modifying factors responsible for the severity of the disorder," said study co-author Dr. Ekaterina Rogaeva of the Centre for Research in Neurodegenerative Diseases at the University of Toronto.


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