Anyone else with mutated Myo-6?

#1

Hi,

I had my genome checked for the reason for my hearing loss, and they found that it is due to a mutated gene named myo 6 (also called myosin VI).
This seems to be a transport motor in the hair cells of the cochlea, and is responsible for those cell’s integrity.

There is only a very small number of medical publications on known patients with this gene mutation. I would like to know if coincidentally anyone of you in this forum has the same disorder? Maybe we could exchange some experiences, I would like to know what kind of hearing degradation I have to expect, and maybe we can share insights what helps and what not.

Regards,
stedon81

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#2

Hello Stefan,

I also have a myosin VI mutation. My geneticist mentioned this paper https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735721/pdf/v041p00309.pdf
Fortunately my cardiologist said I do not have cardiomyopathy and no one in my family history has it. I thought it was worth mentioning though and hopefully won’t cause concern.

AJ

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#3

How did you get your genome sequenced? I signed up for JoinAllOfUs.org and hopefully will have my DNa in a year or two. i was offered more specific tests at the cost of $2500+ so did not pursue those.

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#4

This paper seems to report on a promising technique of gene injection into the cochlea in order to undo or improve issues arising from different gene irregularities.
Referring to functions affected by different mutations (including Myo-6), they write:
“The novel treatment designed with the use of a relatively small molecule results in normal protein expression, improved stereocilia organization and survived cochlear hair cells”
Unfortunately, they still are at the mice testing stage, no clinical tests with human yet.
The further write “The best treatment time window for mutations in this category seems to be before HCs degenerate”, so probably it will come too late for me, but at least there is hope for my children (mutations of Myo-6 are inherited dominantly).

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#5

Hi grantb5,

in Germany, you can go to university hospitals, and if you have a good reason (like familiy indication of some disease), then health insurance pays for it.
The doctor also mentioned to me that this incurs costs of several thousand Euros, and I’m thankful for the good health insurance system in Germany.

Regards,
stedon81

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#6

Hi sufhl,

thanks for your reply. Yes, my doctor also recommended to go to the cardiologist, especially because my brother and my father have some heart problems. Appointment is scheduled, but in Germany one has long waiting times for this…

May I ask you, how old you are, how severe your hearing loss is, and if you have children (also suffering from hearing loss)?

Regards,
stedon81

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#7

I’m 57 and one of my three birth children (age 27) has inherited this mutation from me. We both had hearing loss diagnosed at age 9 and got our first hearing aids at about age 22. My Dad had profound loss and my sister has two cochlear implants. You can see my loss profile if you click on the round circle with the S next to my name sufhl.

I paid $1650 to have my blood shipped and tested at the University of Iowa, MORL lab using OtoSCOPE, which tests 152 genes known to be linked to hearing loss.
https://morl.lab.uiowa.edu/clinical-diagnostics/deafness

There is a great article with first hand experience using this lab in the Jan/Feb 2019 issue of HLAA’s Hearing Life magazine. The HLAA convention this year (June 20-23 in Rochester, NY) will have keynote researchers speaking about this topic.

Finally, here is some recent info on where gene therapy stands from Scientic American:

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#8

Hi sufhl,

sorry for replying that late, but I just wanted to make sure that you know how happy I was that you shared all those details. As this mutation is inherited dominantly, I guess that you and your sister are sharing the same destiny. And to me, it’s sort of relieving to hear that cochlear implants seem to be able to help. I guess it’s no fun to wear those, but I assume it’s at least better than being deaf. And I can comfort myself that there might be a last resort, when my hearing is completely down.
May I ask how old your sister is, and when she received the cochlear implants? How is she coping with them?
From my geneticist I know that there’s at least one documented family in Italy and one in Germany. She’s trying to contact them, maybe their history can give us some more insight what’s still waiting for us.

From your post, I sense you’re quite inquisitive and monitor recent research? Do you attend conventions like the one you’ve mentioned? Is it worth to do so?

Both of my parents have no hearing loss at all, so assumption is that this Myo-6 freshly mutated in my existence. My son is affected, too, and starts wearing hearing aids now in an age of 9. Also my 6-years-old daughter seems to be affected, if I look at her audio profile, but she’s not yet at the point to need hearing aids.
I would be very happy to learn more about any methods that could heal or at least alleviate it a bit, just like those promising gene therapies that they successfully tested with Snells Waltzer mice. It’ll come to market definitely too late for me, but maybe at least my kids have a chance…

Regards,
stedon81

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