NBIA Poland funds study to better understand MPAN’s causes

NBIA PolskaApril 2021

The association that represents all NBIA disorders in Poland has awarded a research grant for €59,000 ($71,571 U.S. dollars) to two researchers in a German Research Center who are investigating still-unanswered questions about the underlying causes of MPAN.

MPAN, which stands for mitochondrial membrane protein-associated neurodegeneration is caused by mutations of the C19orf12 gene.


Dr. Arcangela Iuso, researcher
from Helmholtz Zentrum Munich.

The grant to Dr. Arcangela Iuso and Dr. Ana Messias from the Helmholtz Zentrum Munich is to help fund a two-year research project on MPAN that started in September 2020. Titled “Investigating C19orf12 functions in redox metabolism,” the goal is to better understand how the mutation affects individuals and what drugs might help MPAN patients.


Dr. Ana Messias, researcher
from Helmholtz Zentrum Munich.

Preliminary studies have shown that when the gene C19orf12 is mutated, many processes in the cells are altered leading to MPAN, a progressive degenerative disease. In particular, cells from MPAN patients seem to have increased calcium compared to cells from healthy donors, and are more susceptible to oxidative stress, which occurs when the body has an excess of free radicals. This imbalance can lead to cell and tissue damage, which is part of what the researchers will study.

They also will use several molecular biology and biochemical methods to compare skin cells of MPAN patients to the cells of unaffected MPAN carriers (parents) and other healthy individuals. They want to see if there are significant differences between the cells of each group.
The researchers also will examine the proteins that are produced from the C19orf12 gene mutations. They will compare the normal protein found in healthy individuals to the mutated version that is found in individuals with MPAN.

The goal of comparing the healthy and MPAN cells and non-mutated proteins to the mutated ones is to find some differences that could be used to develop a therapeutic approach for MPAN. The researchers will then test different drugs that could reverse the cell damage in MPAN individuals. The team’s ultimate goal is to identify successful MPAN therapies.
Iuso and Messias will be collaborating and exchanging information with Drs. Marta Skowronska and Tomasz Kmiec, clinicians who see MPAN patients in Poland. Poland has the largest cohort of MPAN patients in the world, with over 45 individuals diagnosed to date.

NBIA Poland will support this project by facilitating scientific exchange between the Munich researchers and the Polish researchers and by making the MPAN patient community aware of the importance of donating biosamples for the research project.

Anyone interested in donating a biosample to the research group should contact Dr. Maciej Cwyl, President of NBIA Poland at mc@il.pw.edu.pl.



Scientific & Medical Advisory Board welcomes two new members

April 2021

Two new members recently joined the NBIA Disorders Association’s advisory group of expert researchers and physicians, while two others say farewell.


Professor Robin Ketteler
of University College London, UK.

The newest members of the association’s Scientific & Medical Advisory Board (SMAB) are Professor Robin Ketteler, a researcher-manager of the High-Content Screening Core Facility at the Laboratory for Molecular Cell Biology, University College London, and Dr. Valeria Tiranti, head of the Molecular Pathology of Mitochondrial Disorders lab at the IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy.

Ketteler has been recognized as a leader in high-content biology and CRISPR genome editing, specializing in the early steps in autophagy, the natural process in which the body's cells clean out any damaged or unnecessary cells. The Ketteler lab is developing therapeutic approaches to target the autophagy pathway in cancer and neurodegenerative disorders. These include the use of patient-derived cells and the use of stem cells for disease modelling and drug screening.


Dr. Valeria Tiranti, of IRCCS
Foundation Neurological Institute
Carlo Besta in Milan, Italy.

Tiranti’s expertise is in mitochondrial and metabolic disorders, including identification of disease genes, molecular and cellular biology, and identifying the causes of disease. She joined the NBIA field some years ago and is studying the role of mitochondria in neurodegeneration by examining cellular and animal models.

Ketteler and Tiranti replace two dedicated, distinguished SMAB members, Dr. Arnold Strauss and Dr. Suzanne Jackowski, both of whom served as expert advisers from 2016 to 2020. Strauss and Jackowski have retired from their research institutions and stepped down from the board at the end of last year. Strauss was a researcher and professor of pediatrics in cardiology at Cincinnati Children’s Hospital and the University of Cincinnati, and Jackowski was a biomedical scientist and faculty member at St. Jude Children’s Research Hospital. The NBIA Disorders Association board will greatly miss their knowledge and expertise.

For more information about our Scientific & Medical Advisory Board, please see our website:

Scientific & Medical Advisory Board



Fundraisers so far this year bring in $12,400

April 2021

- By Cynthia Craig


Levi Gartman, 8, who has PKAN and his sister
Lilah, of South Windsor, Connecticut, wear red
for PKAN fundraiser.


Organizers of the fundraiser
prepare signs to hang up
around the school.

Former classmates of eight-year-old Levi Gartman of South Windsor, Connecticut, held a fundraiser in his honor and raised $900 for PKAN research.

Levi was diagnosed with PKAN in late 2018, and the daughter of his special education teacher, who adores Levi and wanted to do something meaningful for him, came up with the fundraiser idea. Levi’s dad, Jeff, who calls his son “the happiest little guy,” said that was one of the sweetest things he had heard in a while.

For the fundraiser, students at Philip R. Smith Elementary School, including Levi’s sister, Lilah, asked everyone to wear red and bring a dollar to school in tribute to Levi. The donations poured in, one dollar at a time.

Meanwhile, our faithful Facebook birthday fundraising volunteers have been busy since January, raising over $6,500 to support our organization. Our hat is off to Diane Anlauf, Daniele Bianchi, Simone Bianco, Jennifer Bolkin Greene, Monika Burzy, Xochitl Galvan Wilson, Luna Ionita, Amber Jones, Dawnie Kennedy, Alison Lea, Connie Mignon Meschbat-Velez, Patricia Ripp, Timmy Smith, Darian Stray, Malgorzata Wista, Gloria Woolard Basista and Andrea Zulawski.

Finally for Rare Disease Day, Feb. 28, our families displayed their unique stripes to have some fun and support our organization. Because the zebra is the symbol for rare disorders, we posted ‘rare zebra sightings’ on our Facebook page. Over 30 NBIA families submitted photos of their rare, loved ones throughout February. In all, they raised $5,000 and celebrated their uniqueness. As Dr. Seuss says, “Today you are You, that is truer than true. There is no one alive who is Youer than You.”

If you are interested in organizing a fundraiser to benefit the NBIA Disorders Association, we are here to help support your efforts. You can find our toolkit online at https://www.nbiadisorders.org/images/FundraisingToolkit.pdf or contact Development Committee Chair Amber Denton at amber12783@yahoo.com for advice and support.


Bhavin Mehta has PKAN
and was spotted in Mumbai, India.


Lily Smith has PLAN
and was spotted in Fresno, California.




BPAN families gather virtually to offer each other support

December 2020

- By Amber Denton

Amber and Sydney Denton 

Amber and Sydney Denton of Houston, Texas

The fastest growing segment of our NBIA community, BPAN families, gathered virtually Nov. 17 for our first Zoom meeting hosted by NBIA Disorders Association.

With in-person gatherings restricted by the pandemic, we know that building strong relationships with families traveling the same journey is invaluable. Near or far, we are determined to support one another, and most of us have become quite familiar with Zoom.

Families of loved ones who have Beta-propeller Protein-Associated Neurodegeneration from the U.S. and Canada joined the call to catch up with friends, make new friends, ask questions and share stories during the two hour-long session. Families of young BPAN kids gained valuable insight from parents of BPAN adults. We laughed, we cried, we smiled, and we will do it again!

Our goal is to continue NBIA Zoom meetings to offer family support in 2021 and to expand to include meetings for PKAN, PLAN and MPAN in the first quarter of next year. Stay tuned for more information.



Hoffnungsbaum e.V funds MPAN project at Helmholtz Zentrum Center in Munich

October 2020

A lab in Germany investigating the disease mechanisms in Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) received a grant of €151,540 euros ($178,741 USD) from Hoffnungsbaum e.V, the German NBIA patient organization.

This 27-month study will be led by an experienced MPAN researcher, Dr. Arcangela Iuso from the Helmholtz Zentrum München in Munich.

Iuso’s goal is to reveal the cellular function of the C19orf12 gene and the protein it produces. MPAN is caused by a mutation in this gene and understanding how it functions is important to developing potential therapies. Specifically, Iuso and her team hope to understand the protein’s role in lipid metabolism, which is the breakdown of fats within the cell to store energy.

Iuso’s team hypothesizes that the normal functioning of the C19orf12 protein is disrupted, which could lead to an abnormal accumulation of cell products, such as lipids or iron. This can be the cause of the iron accumulation in the brain, a hallmark of NBIA disorders.

Hoffnungsbaum e. V., reports that the research team will include many cooperating scientists, such as Dr. Benjamin Engel at the Helmholtz Pioneer Campus. The organization went on to say that the laboratory will use a new technology called cryo-electron tomography to produce a three-dimensional image of the cells with fine molecular detail. By directly imaging proteins in action, cryo-electron tomography provides molecular insights into cellular processes and thus into disease mechanisms. The Iuso and Engel groups will image cells from MPAN patients, according to Hoffnungsbaum e.V.

Funding for the work was made possible from numerous fundraising campaigns and individual donations to Hoffnungsbaum e. V. Once researchers are able to understand the mechanisms of the disease, they can pave the way for developing treatments for MPAN and other NBIA disorders.

Collaborating partners for the MPAN research team investigating the role of C19orf12 in cell lipid metabolism are from left: PhD student Enrica Zanuttigh of Helmholtz Zentrum München, Dr. Lucia Berti of the Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Center Munich at the University of Tübingen, Dr. Benjamin Engel at the Helmholtz Pioneer Campus in Munich, project leader Dr. Arcangela Iuso, early-career scientist Dr. Tilak Kumar Gupta, and technical assistant Annett Hering from Helmholtz Zentrum Munich. Not pictured: Dr. Sophie Ayciriex from the Institute of Analytical Sciences at the University of Lyon, France.


nbia alliance logo1NBIA Cure logoRare Disease Day PartnerTIRCON

Genetic Alliance logoNORDEURORDISGlobal Genes

Disclaimer    |     Privacy Policy    |     Financials    |     Contact Us

Give While You Shop!