Barth Syndrome News and Research

RSS

BTHS syndrome is an X-linked genetic cardioskeletal muscle disease resulting in muscle weakness and fatigue in patients. The debilitating disorder is caused by a mutation in the genetic coding of tafazzin, an enzyme of the cardiolipin pathway.

Researchers identify potential new drug target for treating Barth syndrome

In a Nature Metabolism paper published today, researchers from the University of Pittsburgh detail a potential new target and a small-molecule drug candidate for treating Barth syndrome, a rare, life-threatening and currently incurable genetic disease with devastating consequences.

23 Nov 2023

New discovery helps explain heart defects in Barth syndrome

The heart needs energy to pump blood. So, energy production defects in heart muscles result in a variety of cardiac diseases.

7 Jul 2020

Researchers use nanoparticles to deliver gene therapy for blinding eye disease

In experiments in rats and mice, two Johns Hopkins scientists -; an engineer and an ophthalmologist -; report the successful use of nanoparticles to deliver gene therapy for blinding eye disease.

7 Jul 2020

Gene therapy reverses cardiac dysfunction in mice with Barth syndrome

Barth syndrome is a rare metabolic disease in boys caused by mutation of a gene called tafazzin or TAZ. It can cause life-threatening heart failure and also weakens the skeletal muscles, undercuts the immune response, and impairs overall growth.

9 Mar 2020

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Barth syndrome 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.

16 Feb 2020

Researchers aim to reveal new direction for Barth syndrome treatment

The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."

28 Mar 2018

New dye more effective in detecting, measuring cardiolipin in cell membranes

A team that includes Dartmouth College researchers has discovered a new way to detect cardiolipin, a key indicator of heart diseases and some genetic disorders.

16 Jan 2014

WSU researchers to test novel hypothesis that cardiolipin deficiency leads to disruption of TCA cycle

Barth Syndrome (BTHS) is a rare and serious 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.

8 Aug 2012