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Wayne State University team developing new treatments for Barth syndrome

February 14th, 2020

Barth syndrome (BTHS) is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder. Fifty percent of children born to a mother who is a carrier will inherit the defective gene, and all daughters born to an affected man will be carriers. BTHS is caused by a mutation in the tafazzin gene that results in decreased production of cardiolipin, an essential lipid for energy metabolism.

A team from Wayne State University, led by Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences, recently received a grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health to work on potential new targets for treating Barth syndrome. The four-year, nearly $1.5 million award, "The role of cardiolipin in the TCA (tricarboxylic acid) cycle: Implications for Barth syndrome," aims to identify specific metabolites as candidates for new treatments for Barth syndrome and other cardiomyopathies.

According to Greenberg, BTHS causes numerous pathologies, including cardiomyopathy, a disorder of the heart muscle; neutropenia, a reduction in the number of white blood cells; hypotonia, reduced muscle tone; undeveloped skeletal muscles and muscle weakness; delayed growth; decreased stamina; physical disability; and methylglutaconic aciduria, an increase in an organic acid that is characteristic of abnormal mitochondrial function.

Greenberg and her team aim to create a new model of Barth syndrome pathogenesis by elucidating mechanisms where cardiolipin regulates the TCA cycle and intermediary metabolism.

"We aim to reveal a new direction for BTHS treatment based on activation of PDH and/or supplementation of deficient metabolites," said Greenberg. "The outcome of our study may reveal a new direction for Barth syndrome treatment based on supplementation of deficient metabolites."

Provided by Wayne State University

Citation: Wayne State University team developing new treatments for Barth syndrome (2020, February 14) retrieved 10 May 2024 from https://sciencex.com/wire-news/343159833/wayne-state-university-team-developing-new-treatments-for-barth.html

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