Contact details
Mitochondrial Specialist Nurse
The National Hospital for Neurology and
Neurosurgery
Box 102
London
WC1N 3BG
Switchboard: 0845 155 5000 / 020 3456
7890
Direct Line Telephone: 020 3448 8009
Email: [email protected]
Website: www.uclh.nhs.uk/nhnn
UCL Hospitals cannot accept responsibility for
information provided by external organisations.
If you need a large print, audio or a
translated copy of this document, please
contact the nurse specialist directly. We
will try our best to meet your needs.
What is mitochondrial
disease?
Centre for Neuromuscular
Diseases
The Nurse Specialist is available from
Monday to Friday (excluding bank holidays).
Where can I get more information?
Muscular Dystrophy UK
http://www.musculardystrophyuk.org/
Call the helpline 0800 652 6352 for
information and support about Benefits and
advocacy concerns.
The Mitochondrial NCG service in the UK
Website:
http://www.mitochondrialncg.nhs.uk
Lily Foundation www.lilyfoundation.org.uk
National Hospital for
Neurology and
Neurosurgery
Publication date: November 2016
Date last reviewed: November 2016
Date next review due: November 2018
Leaflet code: UCLH / NHNN/ MUS//MD/1
© University College London Hospitals NHS Foundation Trust
2013
This leaflet has been written by the Specialist
nurse who works in the mitochondrial service.
This leaflet is for patients who are seen at the
National Hospital for Neurology and
Neurosurgery, who have a diagnosis of
mitochondrial to outline simply what it is. The
leaflet is for patients and their family or
carers.
What is mitochondrial disease?
Mitochondria are the ‘batteries’ in all of our
cells throughout our body and they produce
the energy for the cell to work effectively.
When a person has mitochondrial disease
their ‘batteries’ may not work as effectively
and therefore the cells don’t work well and in
some cases the cells die.
What are the symptoms?
If there are a lot of cells not working effectively
then the organ in which the cells sit will not
work properly and the person will experience
problems related to the poor function – for
example if there are a lot of cells affected in the
brain the person could experience seizures.
It all depends on which organ is being affected
by the ‘bad’ or abnormal mitochondria and how
much energy that organ needs to function
effectively. There are a lot of different
combinations of symptoms even with the same
genetic change (such as 3243)’.
The cells and organs affected by these
‘faulty’ mitochondrial can vary from person to
person; some may have very mild symptoms
in only one organ while others can have lots
of problems affecting lots of organ systems.
One of the most common things that people
describe is fatigue, this is like the batteries
are drained or ‘hitting the wall’ unable to
continue with the activity.
Mitochondrial disease can be noticed at a
very early age in some patients and later on
in life with other patients. Everyone is
different.
What causes mitochondrial disease
(the genetic stuff)?
In each person we have DNA which we
inherit from our parents: half from mum and
half from dad, this makes up 99% of our
genetic information. The DNA in the nucleus
(the command centre of our cell) has a role
to play in the way the mitochondria work and
how they repair themselves, so if there is a
problem with one of the nuclear genes that
works on the mitochondria then the
mitochondria won’t be very effective.
We also have DNA in the mitochondria
(mtDNA) (the genes that tell the mitochondria
how to work) which we can only inherit from
our mothers.
Mitochondrial disease can be caused by a
spelling mistake (mutation) in the mtDNA or
by faults in the genes that work on the
mitochondria in the cell’s nucleus – the main
part of the DNA we carry.
In some people we may not be able to find
the spelling mistake but as our knowledge of
the genes that work on the mitochondria
develop we may find more that cause the
disease.
However changes in the DNA can also occur
spontaneously during conception and have
nothing to do with being passed from parent
to child – these are called de novo changes.
Each spelling mistake, whether it is in the
mitochondrial DNA (mtDNA) or in the
nucleus (nDNA), will give different symptoms
in each individual and it is hard to give
specific information about how it can affect
people.
How is it treated?
There is no cure, and treatments are aimed
at dealing with the symptoms associated with
whatever system is affected.
If you would like to have some specific
information about your mitochondrial disease
then please speak to the mitochondrial team
at your next appointment or contact the
specialist nurse.