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MGH researchers find new disease causing twins to keep low body weight despite extra food
The disease is affecting identical twins and the mitochondria within their bodies.
Local researchers have identified a new disease affecting identical twins, causing them to maintain very low body weights despite eating more food than typically needed.
The discovery of this disease, which had not been previously reported in the medical community, was made by scientists affiliated with Massachusetts General Hospital and Children’s Hospital Philadelphia.
Research appears to show that the strange condition is rooted in mitochondria. Most cells contain large numbers of mitochondria, as these are responsible for converting the food humans eat into life-sustaining energy.
Most diseases that affect mitochondria usually interfere with how effectively they are functioning. What is odd, researchers said, is that the mitochondria found in these two patients were actually exhibiting a higher level of activity than normal. Thus, the twins’ body weights remained low despite ingesting far more calories than needed.
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“This is a highly unusual mitochondrial phenotype. There are more than 300 rare genetic mitochondrial diseases, and nearly all of them are associated with an interruption of mitochondria,” Senior Author and Professor of Systems Biology and Medicine at MGH Vamsi K. Mootha said in a statement.
Through genome sequencing, researchers found a mutation in a particular enzyme known as mitochondrial ATP synthase. Cells need this enzyme to generate ATP, a molecule that is essential to storing energy.
Researchers conducted further experiments, and determined that the mutation leads to “leaky” mitochondria that dissipate energy instead of retaining it. This process is called mitochondrial uncoupling, and the team behind this work is already using the term to describe the new disease.
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“We propose a new name — mitochondrial uncoupling syndrome — that presents with hypermetabolism and uncoupled mitochondria,” Mootha said in a statement. “These cases are very important for the field of rare disease genetics, mitochondrial biology, and metabolism.”
This research is important because it opens a door into the wider world of mitochondrial uncoupling syndromes, allowing scientists to study how energy metabolism differs in the general population.
“These twins represent the first disorder of mitochondrial uncoupling where we have been able to find the genetic cause,” said Rebecca D. Ganetzky, an attending physician in the Mitochondrial Medicine program at CHOP and co-author of the study, in a statement. “By discovering that pathogenic variants in the ATP synthase itself can cause mitochondrial uncoupling, these twins may be the first identified patients in a whole class of diseases of mitochondrial coupling.”
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