Chromosome 3 – AKU: Black urine disease
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Chromosome 3 – AKU: Black urine disease


[MUSIC PLAYING] Three, two, one, action,
you’re supposed to say, aren’t you? Action. I’m Paul Wilkinson,
and I’m 68. I was born with AKU, and I was
diagnosed at 16, and I was referred to a London hospital. I’ll tell you how
I describe it. AKU is a genetic metabolic
disease. The body can’t deal
with protein. It turns the protein into
homogenic acid, and the acid eats the cartilage away. I understand it’s linked
to chromosome 3. Patients with alkaptonuria, or
AKU, have trouble breaking down protein, and this leads
to the harmful buildup of a compound called homogentisic
acid. It is a recessive genetic
disease associated with a defective gene on
chromosome 3. So in order to get AKU, patients
must inherit two copies of this faulty gene,
one from their mum and one from their dad. This makes it a very
rare disease So they’re born with
the condition. So therefore, all you can see
initially is just dark urine. By around the age of 25 to 30,
they start to get back pain. They start to get discoloration
of the ears. And progressively, over time,
the knees and the hips, all the joints of the body
start to become involved in this process. I’m Professor Ranganath. I’m a consultant at the Royal
Liverpool University Hospital. And I’m the clinical director
of the National Alkaptonuria Centre in Liverpool. Funded by the Department
of Health, the National Alkaptonuria Centre opened in
June 2012, and for the first time brings together a team of
specialists to help treat and monitor AKU patients. So we quickly realised that
people with alkaptonuria have problems walking. Mobility is impaired
significantly in patients. And that is a hugely important
issue for quality of life. In my 30s, my back of my neck
was the first thing that began to get very stiff,
very painful. And then, within a very short
while after that, one of my hips virtually went in a
matter of months, just crumbled away. The cartilage gets brittle,
and it breaks up, and over time leads to pretty much the
damage of the whole joint. And the ultimate treatment
that’s all the rage is joint replacement. The National Alkaptonuria Centre
are now collaborating with the Liverpool John Moores
University to analyse gait impairments in AKU patients. Because the joints undergo this
kind of degradation, the inevitable effect of that is
that the way the person moves will be affected. So what we’ve been doing here
today is called “clinical gait analysis.” It’s basically the
scientific method of measuring how we walk. I’ve been walking up and down
with these markers on my legs so that, I think, they can
analyse my walking method, what’s good, what’s bad. We analyse it scientifically. We can then pinpoint which
joints are damaged and what mechanism might be affecting
mobility in these patients. From his gait, we can see if
he’s making any compensations. Obviously pain is one of the
biggest predictor if you change a gait. So if something looks abnormal,
and in that area he says he has pain, we can kind
of connect the dots. We can give some advice to the
patient on how, perhaps, to avoid some compensations and
prefer another type of compensation that puts less
stress on their joints. Paul was walking quite slowly. That was the first obvious
thing that we noticed. And having been through so many
operations, I’m sure that he has had a fair share
of trouble and difficulties walking. I’m having some real mobility
issues in my left foot, and I’m under a bit of pressure
to have some more surgery. It’s quite difficult
at the moment. The National Alkaptonuria Centre
is currently trialling a new treatment called
nitisinone that helps prevent the buildup of homogentisic acid
and, therefore, eliminate the harmful effects of
this rare disease. Since 2006, 2007, which is
really quite short period of time– six or seven years– we have made enormous strides,
and we’re now on the brink of a treatment for alkaptonuria. Oh the black pee. i haven’t
got the black pee now. I feel bereft that I haven’t
got black pee. So I have known Paul for
nearly six years. And he commenced the nitisinone
last year when he came to the centre in October,
and he has been on that for one year so far. But he’s doing really well. A matter of weeks, if
not months, the black pee had gone. For the first time in 60-plus
years, I peed normal colored male urine. What was that like? It’s just amazing,
really, isn’t it? For more information about
alkaptonuria, visit the AKU society website,
www.akusociety.org. [MUSIC PLAYING]

13 thoughts on “Chromosome 3 – AKU: Black urine disease

  1. Chromosome 3 – AKU: Black Urine Disease

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    Chromosome 3 – AKU: Black urine disease

  2. Once again, I'm impressed by how small things (such as chromosomes) affect us.  We are separated from the chimps by the fact that there are 2 parts of Chromosome 2 for chimps rather than (and equal to) the long Chromosome 2 for humans!  For me, a very amateur scientist, this is absolutely fascinating. Also very interesting is that small worms are used for testing chromosomes.  THINK SMALL!  I probably sound quite mad, but I just find so many aspects of scientific research amazing – I suppose I could be defined as being in a perpetual state of WONDER – and it's absolutely brilliant to be like this!

  3. Why Dr. L Ranganath's name was not displayed in the video? Let me guess…. racism may be…  He is the  chairman of National Alkaptonuria Centre.   

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