Gene that causes devastating mitochondrial diseases identified

Gene that causes devastating mitochondrial diseases identified

Researchers have identified a disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders. Nine mutations of the gene were found in nine children in seven families, including three siblings from the same family.

via ScienceDaily: Top Health News:

Aug. 29, 2013 — Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.Nine rare, disease-causing mutations of the gene, FBXL4, were found in nine affected children in seven families, including three siblings from the same family. An international team of researchers report the discovery in the American Journal of Human Genetics.The lead author is Xiaowu Gai, PhD, director of the Center for Biomedical Informatics at Loyola University Chicago Stritch School of Medicine.Mitochondrial diseases are caused by defects in mitochondria, the cell’s energy plants. Malfunctions in mitochondria lead to multi-systemic defects in the brain, heart, muscles, kidney and endocrine and respiratory systems. The many possible clinical symptoms include loss of motor control, muscle weakness, heart disease, diabetes, respiratory problems, seizures, vision and hearing problems, diabetes and developmental delays.Mitochondrial diseases are caused by mutations in either mitochondrial DNA or in genes in the nucleus that encode for proteins that function in the mitochondria. Mitochondrial DNA is inherited from the mother. Thus, a child can inherit a mitochondrial disease either from the mother alone or from both parents carrying mutations in the same nuclear gene. Mitochondrial diseases affect between 1 in 4,000 and 1 in 5,000 people.FBXL4 is a nuclear gene that encodes for a protein called F-Box and Leucine-Rich Repeat Protein 4. The study found that mutations of this gene lead to either truncated or altered forms of the protein. This results in cells having less mitochondrial DNA, decreased mitochondrial membrane potential and a faulty process in cell metabolism called oxidative phosphorylation. …

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ScienceDaily: Top Health News

Gene that causes devastating mitochondrial diseases identified

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