Successful scientific breakthrough in diagnosing SMA disease

altAccording to the last scientific repots, the problem of diagnostics of dangerous disease as SMA (spinal muscular atrophy) is partly solved. The group of US geneticists made the statement where they declared about the new research that helps to identify the most widespread genetic diseases as SMA in a laboratory environment. Such wonderful opportunity appeared after discovering the new way of receiving the large number of affected cells.

As the popular scientific journal Nature informs, the scientists were using during this research the skin cells of a little child who had the destructive genetic condition. At the beginning of the experiment these cells were transformed into stem cells (so-called body\'s master cells), after this into nerve cells which were destroyed when the “wrong” gene was activated.

 

The team said the earliest stages of the disease could now be identified.

The child involved suffered from spinal muscular atrophy (SMA), a condition which kills nerve cells controlling muscles, causing paralysis and ultimately death, usually by the age of two. 

While doctors know these cells are dying, they have not been able to watch the process in close-up, and look for clues as to exactly how the genetic fault carried by these children is affecting them. 

The new technique could in theory provide them with as many nerve cells as they need. 

All cells in the body - including skin and nerve cells - originate from the same stem cells found in the early embryo. 

Scientists have already found ways to \"persuade\" skin cells to turn back the clock and become stem cells again. 

Once in this state, they can then encourage them to become brand new cells of a different type. 

In this case, researchers from the University of Wisconsin-Madison and the University of Missouri-Columbia coaxed them into becoming neurons. 

As these nerve cells carried the SMA gene fault, the team observed that, after thriving for a month, they started dying. 

New therapies 

Professor Clive Svendsen, one of the researchers, said: \"Now you can replay the human disease over and over in the dish and ask what are the very early steps that began the process - it\'s an incredibly powerful tool.\" 

Another researcher, Dr Allison Ebert, said: \"If we start to understand more of the mechanism of why the motor neurons specifically affected in the disease are dying, then potentially new therapies can be developed to intervene at particular times early in development.\" 

In theory, SMA is not the only genetic disease which could be studied using this method - the researchers say disorders such as Huntington\'s disease could be investigated this way. 

Professor Robin Lovell-Badge, of the Medical Research Council\'s National Institute for Medical Research in London, said that the technique would undoubtedly become \"an important tool\" for researchers. 

He said: \"While I would be cautious about interpreting too much from this particular research, and would like to see it repeated using more stem cell lines, I expect this to fairly quickly become a significant aid to drug discovery.\"