The Muscular Dystrophy Association (MDA) has recently added to its research team an expert in neurological diseases in order to enhance and improve its healthcare service programs. MDA has hired Lianna R. Orlando, Scientific Program Officer who comes to MDA from Fidelity Biosciences Research Initiative.

There at Fidelity, she was the Associate Director and she oversaw the funding of several research projects concerning neurodegenerative diseases like Alzheimer’s Disease and then hosted and organized scientific conferences. Before being at Fidelity, she was at the Massachusetts General Hospital as a junior faculty member and her work was focused on neurodegeneration and glutamate receptors. While completing her PhD at Harvard University she received an additional masters in Medicine from the Harvard Medical School due to her will of better understand human pathophysiology and more efficiently translate her findings to the humans diseases’ treatment. At MDA, she will be managing the grant portfolios for muscles diseases such as congenital myopathies, myotonic dystrophy and mitochondrial myopathies.

“As we continue to build a powerful research team here at MDA, we are lucky to have Lianna be a part of it. She brings an incredible amount of expertise to the field of research development in the neurological space. MDA remains committed to pursuing lifesaving discoveries and I’m looking forward to working with Lianna and the team to ensure that MDA continues to prioritize progress for the families we serve and the larger research community,” said Valerie Cwik, MDA Executive Vice President and Scientific Officer and Chief Medical.

Lianna and the MDA team will accelerate new discoveries that might lead to cures and treatments for neuromuscular and motor neuron conditions.

MDA will refocus its research investments; start new partnerships and more clinical trials; ameliorate care services and open new channels where those with the diseases can seek for support. The last year, MDA funded over 290 research projects in 17 countries.

“I am thrilled to join MDA at such an exciting time, when research is taking center stage. MDA has had a hand in nearly every in neuromuscular disease research breakthrough, and I look forward to applying my experience supporting research efforts in other areas to help the MDA continue to achieve its mission,” Orlando noted.

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Researchers from the University of Helsinki recently found that a vitamin B3 form might be effective in attenuating the progression of mitochondrial myopathy. The study is published in the journal EMBO Molecular Medicine.

Mitochondrial disorders are caused by respiratory chain deficiency (RCD) and are the most usual form of hereditary metabolic disorders. Mitochondrial myopathy (MM) is a progressive and often fatal condition. Development of mouse models replicating mitochondrial disease phenotypes has provided a unique opportunity both for therapeutic trials and for detailed studies of the molecular pathophysiology of primary mitochondrial dysfunction, however at the moment there are no available treatments for these diseases. Studies with mice models indicate that the defect in metabolic energy in adults’ muscle is interpreted as a state of starvation, despite normal nutrition, leading to “pseudo‐starvation” response. Research has also shown that one of these response mediators is the ratio of oxidized (NAD+) to reduced (NADH) nicotinamide adenine dinucleotide. cellular pathway.

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Since Vitamin B3 is a NAD+ precursor, Anu Suomalainen from the Neuroscience Research Centre University of Helsinki in Finland along with colleagues examined if by increasing NAD+ levels with nicotinamide riboside (NR) (a vitamin B3 form), it could cause a pathological change in mitochondrial myopathy (MM) or a delay in the disease progression.

In their study titled “Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3,” researchers gave mouse MM models,a pre-oral NR, a vitamin B3 form and a NAD+ precursor. They found that NR stimulated mitochondrial mass and function and was able to cure the structural defects of the mitochondria. At the same time, the researchers observed a delay in the accumulation of mitochondrial DNA mutations. They also found that MM pseudo‐starvation response is associated with a protective stress response from a mitochondrial unfolded protein response (called UPRmt) with induction of fasting cytokine, called FGF21. UPRmt was able to enhance NR and the researchers concluded that UPRmt plays a protective role in MM.

Based on these results, the researchers indicated that oral administration of vitamin cofactors such as NR might be beneficial and attenuate disease progression. Vitamin cofactors are able to modify metabolism and that treatment strategies increasing NAD+ should be explored in the patients with MM.