$60,000 Grant Awarded to study decreased Mitochondrial Energy Production in BPAN
December 2023
Dr. Arcangela Iuso from the Helmholtz Zentrum München’s Institute of Neurogenomics in Munich, Germany, has been awarded a one-year grant of $60,000 from our organization. Her project was selected from seven applications submitted for our BPAN grant call this past spring.
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| Arcangela Iuso, from the Helmholtz Zentrum München’s Institute of Neurogenomics in Munich, Germany. |
Iuso’s project focuses on understanding why mutations in the WDR45 gene lead to reduced energy production by mitochondria, considered the powerhouses of the cells. This defect was initially pinpointed in the brain tissue of a BPAN mouse model. It appeared to be linked to the malfunctioning of a specific mitochondrial enzyme known as Respiratory Chain Complex I (RCCI), a discovery that Iuso co-authored in a 2021 publication available here.
Recently, the defect of RCCI was also identified in muscle and skin cells of a BPAN patient with the findings presented by Dr. Anna Ardissonne at the 8th International NBIA Symposium held last October in Lausanne, Switzerland.
Iuso's current project aims to clarify if the enzymatic issue affects all brain cells uniformly or if specific cell populations, such as neurons or their supporting cells, are more susceptible. To investigate this, Iuso's laboratory will generate neurons and supportive cells using induced pluripotent stem cells (iPSCs) derived from the skin cells of individuals affected by BPAN. This methodology will help pinpoint the precise brain cell type the enzymatic deficiency impacts.
The subsequent phase involves exploring therapeutic compounds that could potentially restore the enzymatic activity of RCCI within the laboratory setting. Iuso aims to evaluate natural compounds or FDA-approved molecules in the hopes of identifying a potential therapeutic approach for BPAN.
