Dr. Urano’s October 2018 Update

October 18, 2018Fumihiko “Fumi” Urano, MD

Dear Friends,

It is wonderful to see you again. I hope you and your family are enjoying the beautiful autumn weather and nature. I love to do a nature walk especially in autumn, and I came up with the following idea during my nature walk. I’d like to share this idea with you as I know you are my friend and supporter. 

To provide a cure for Wolfram syndrome, we need to protect our eye cells, brain cells, and insulin producing cells. If they are damaged, we need to fix them and even regenerate them. I came up with the concept of “Regenerative Gene Therapy.” This is a combination of regenerative therapy and gene therapy. As you know, my team has discovered a molecule that is produced naturally in the body that can activate the proliferation of damaged beta cells and brain cells. Expression levels of this molecule, MANF, are usually low in the human body. We are developing a method to enhance the activity of MANF using a gene therapy. We are trying to produce a safe virus expressing MANF to transduce into patients’ cells with resultant creation of MANF within the cell. This treatment could then be applicable to Wolfram syndrome, as well as other forms of neurodegenerative disease.  

 

As always, please feel free to contact me with any questions or concerns (urano@wustl.edu). I would like to know what you think and how you feel. I always appreciate your support and encouragement. You are a wonderful person. We will decrease human suffering together.

With gratitude,

Fumi Urano

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Neuropsychiatric features of Wolfram Syndrome and other genetic disorders

As discussed in a previous newsletter, we have learned

that anxiety and depression symptoms are fairly common

in people with Wolfram Syndrome. These symptoms are

also very common in people without Wolfram Syndrome,

and may be influenced by genes, life stress, and other

factors.

In preliminary examination of our data, I have also noticed

some trends indicating that psychiatric symptoms and

certain types of neurological signs/symptoms might be

related.  I plan to further analyze the data to confirm

whether this is true. I would also like to take a closer look

at the brain imaging findings to investigate whether

specific difference in brain structure or function may be

related to specific psychiatric and/or neurological

symptoms.

I also hope to do some investigation comparing the types

of symptoms seen in Wolfram Syndrome to those

reported in other genetic disorders that affect the

functioning of ryanodine receptor calcium channels

(RYRs), which release calcium from the endoplasmic

reticulum (ER) within cells. In Wolfram Syndrome, too

much calcium is released through these channels. Studying

disorders with similar disease mechanisms could help us

understand what produces the symptoms of both

Wolfram Syndrome and other related other disorders. It is

possible that diseases with similar mechanisms may

respond to similar types of treatment.

By Angela M. Reiersen, MD, MPE

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