Medicine News & Research

Bulgarian Neurologists Have Contributed To The Discovery Of A New Genetic Disorder

Bulgarian Neurologists Have Contributed To The Discovery Of A New Genetic Disorder 17 MED4MIN.com Medical and Pharmaceutical News, Education and Fun Medicine, News & Research
Prof. Ivaylo Tarnev
Bulgarian researchers have contributed to the discovery of a new genetic disease that has been mistaken for a form of childhood cerebral palsy.. until now.

To begin with, I would like to congratulate all of the researchers on the team for the amazing discovery!

My fellow colleagues and countrymen, along with their colleagues from the USA, have found a new gene mutation that causes hereditary spastic paraplegia.

The gene mutation they found is in the UBAP1 gene. Mutations in this gene are also associated with Alzheimer’s disease and Dementia. You can read more about it here.

Our team of neurologists – Prof. Ivaylo Tarnev, Asoc. Prof. Teodora Tschamova and Asoc. Prof. Albena Dimitrova, have examined 10 families, 2 of which from Bulgaria.

About hereditary spastic paraplegia (HSP)

Bulgarian Neurologists Have Contributed To The Discovery Of A New Genetic Disorder 18 MED4MIN.com Medical and Pharmaceutical News, Education and Fun Medicine, News & Research
Asoc. Prof. Teodora Tschamova

You can read all about the disease on Wikipedia, but what is really treacherous about it is that at one point it affects the respiratory muscles. And you can guess what happens then.. respiratory failure (the respiratory muscles just become stiff and can’t relax properly).

By now there are 56 genes connected to the disease. Its onset is usually in early childhood and it very much resembles cerebral palsy.

According to Prof. Tarnev, the discovery of this mutation (autosomal-dominant in nature) is putting us one step closer to discovering a gene therapy. What is more, their finding also shows the pathogenesis of the disease and creates a window for prophylaxis.

About the families in Bulgaria

Both families in Bulgarian have been followed up since 1997.

What is interesting is that they are not connected in any way but share the same mutation which points to a higher frequency of the disease than expected.

To sum up…

This is the 14th scientific discovery of the team and was awarded First Award at the National Congress of Neurology.

Sources on the next page!

Did you find this useful?

Click on a star to rate it!

Average rating / 5. Vote count:

We are sorry that this post was not useful for you!

Let us improve this post!

About the author: Ivan Nankov
Hello and greetings from Bulgaria. I am still a medical student but in my final years of study - 5th year, 1 to go - that is both great and a bit frightening. I have always wanted to have a website/blog where I can write some articles, share some views, comment and give my opinion on other articles, news, videos etc. And mostly a place where that can stick and not just sink down the timeline of some social network. I have lots of interests and am going to share most of them here. You can ask me anything on my facebook, instagram, the contact me page and so on. And, yes, blogs may be a bit oldschool as I hear from people, but who cares... 😀 Stick around, I bet you'll find something interesting to read.
Share this:

Comment via Facebook

What Do You Think?

Use Imgur to upload and share images! Just copy the link!

Get Connected!

Come and join our community. Expand your network and get to know new people!

No comments yet

Newsletter

Email notifications on some new posts?

Why not? You can turn them off anytime!

I agree to the terms & conditions

Want To Join The Club?

#MED4MIN.community

The latest on My MED4MIN.com