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Home»News»Mitochondrial dysfunction in blood -brain barrier can contribute to neuropsychiatric disease in 22qds
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Mitochondrial dysfunction in blood -brain barrier can contribute to neuropsychiatric disease in 22qds

healthtostBy healthtostAugust 20, 2025No Comments4 Mins Read
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Mitochondrial Dysfunction In Blood Brain Barrier Can Contribute To Neuropsychiatric
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In a new study led by the University of Pennsylvania School of Veterinary Medicine (PENN VET) and the Philadelphia Children’s Hospital (CHOP), the researchers found that mitochondrial dysfunction in blood -brain barrier (BBB) can be found. The researchers have also shown that a category of cholesterol drugs approved by the FDA could possibly be redefined to treat this malfunction. These encouraging findings were published today in the magazine The translation medicine of science.

The BBB is a specialized vascular system that separates the brain from the rest of the body. The maintenance of the BBB is fundamental to the optimum brain function and the BBB disorders have been linked to multiple neurological disorders, ranging from autism and schizophrenia to neurodegenerative conditions, including multiple sclerosis and Alzheimer’s disease.

A notable feature of the BBB is increased mitochondrial content compared to peripheral endothelial cells, which form the inner lining of blood vessels. While mitochondrial dysfunction has been associated with neurodevelopmental and neurodegenerative disorders, few are known for its role in the BBB. To explore it in more detail, the researchers decided to focus on 22qds, also known as Digeorge Syndrome. This genetic condition, which includes six mitochondrial genes, increases the risk of neurodevelopmental and neurodegenerative diseases. Patients have a 25 times increased risk of developing psychosis and one in four people with this syndrome develop schizophrenia.

Chop has the largest clinic in the world dedicated to the care of children, adolescents and some adults with 22qds and a special team of Penn and Chop researchers is studying the situation as a window in the deepest mysteries of neurodevelopmental disease.

We have previously found that the BBB is at stake in 22qds, indicating that the interference between the brain and the periphery may be affected. With these findings, we have encountered the assumption that mitochondrial deficits contribute to the BBB malfunction in 22qds. ”


Jorge Iván Alvarez, PhD, Study Author, Associate Professor

“This study really demonstrates the power of cooperation,” said Study Author Stewart A. Anderson, MD, a research collaborator in the Department of Children and Adolescent Psychiatric and Behavioral Sciences in Chop and Deputy Director of the Brain Brain Chop/Penn Lifespan Institute. “By combining our corresponding expertise on mitochondrial function and BBB, we have made an important discovery that can essentially help people with 22qds.”

The researchers have actually found damage, indicating a “leak” BBB, using a combination of human -abductors of microvascular endothelial brain cells derived from 22qds of stem cell cells and 22qds BBB intracetic cells.

Perhaps more exciting, the researchers found that the treatment with Bezafibrate pharmacy, a cholesterol drug that is also an actuator of mitochondrial production and turnover, can enhance BBB function both in the stem cell system and the 22QDs. The treatment in the preclinical model also corrected the deficit in social memory, an abnormality associated with the malfunction of the BBB as well as schizophrenia. These findings indicate that this category of drugs could potentially be repositioned if the findings are confirmed in clinical trials. While 22qds was the focus of this study, Dr. Anderson and Alvarez and their groups believe that the findings can have an impact on the role of the role of mitochondrial dysfunction in BBB in other neuropsychiatric conditions, including the development of psychosis outside the 22qds framework.

This study was supported by the Neuropsochiatry Research research program of the Uytengsu-Hamilton 22Q11 of the Mother and Child Research Research Institute (MCHRI) at Stanford UH22QEXTFY22-03. The grant of the National Institutes of Health (NIH) at the Institute of Translation Medicine and therapeutic (ITMAT) and the Tapitmat (Tapitmat) program of the University of Pennsylvania NCATS 5Ul1TR001878-04. NIH grants R01MH134797-01, R01MH134893-01, R01MH110185-03, R01MH066912 and R37NS048471; NIH -National Institute of Nih Grant F32MH125600 brain Institute; The Penrose family; The Howard Hughes Medical Institute. The Graduate Foundation Foundation Family Foundation of Blavatnik. The great hardening of Canada -HERDI PLAND SERVICE? and the brain and behavior research institution.

Source:

Philadelphia Children’s Hospital

Magazine report:

Crockett, am, et al. (2025) Bezafibrate improves mitochondrial function, the integrity of the blood -brain barrier and social deficits in models of 22q11.2 deletion syndrome. The translation medicine of science. doi.org/10.1126/scitranslmed.ads2116.

22qds barrier blood brain Contribute disease Dysfunction mitochondrial neuropsychiatric
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