Diagnostics is an important part of the work of any hospital, and the Karolinska University Hospital in Stockholm, Sweden is no exception. One of the diagnostics departments is Centrum för medfödda metabola sjukdomar (CMMS, Centre for Inherited Metabolic Diseases) which has been using BioThema reagents since 1985. Inherited metabolic diseases can be of a variety of different kinds, and one group is in the area of mitochondrial diseases.  Mitochondrial diseases are rare, about 1 in 5000 are affected in some way. The disease often debut already under the infant period and then with severe symptoms which might be fatal. Symptoms might also develop under adulthood. Most commonly affected are brain, muscle, sight and hearing.

Rolf Wibom,  PhD and biochemist at the CMMS, Karolinska University Hospital, Stockholm.

“Mitochondrial disease is caused by either mutations in the mitochondrial DNA or mutations in the nuclear DNA  (which may in some cases cause secondary mutations in the mitochondrial DNA).  Despite a lot of intense research in this area, we still only have a vague picture over how the two genomes co-operate and which mutations may affect the mitochondrial system”, says Rolf Wibom, biochemist and responsible for the laboratory investigations of the mitochondrial disorders at CMMS.


Automatic sampling apparatus at the CMMS, used to prepare the 96-well plates before measurement in the luminometer.

Of the patients received every year, about 25% are diagnosed with a mitochondrial disease. Unfortunately there are no therapies for the affected patients at the moment.
“The ability to identify the patients is however the first step towards a better understanding of the mechanisms beyond these disorders. We assume a disturbed ATP production (i.e. low energy production) lead to the large spectrum of symptoms we see in the patients, but we know little about how this happens. An increased knowledge will for sure lead to better therapies in the future”, says Rolf Wibom.

Rolf Wibom can be contacted at rolf.wibom(at)karolinska.se.

Visit www.karolinska.se to read more about Centre for Inherited Metabolic Diseases.