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Brittle bone disease

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure this impairment causes those with the condition to have weak or fragile bones. more...

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As a genetic disorder, OI is a autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual (de novo or "sporadic") mutation.

Types

There are four types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type IV, Type III and Type II. A Type V has been proposed based on studies of Type IV.

Type I

  • OMIM 166200 - Type I
  • OMIM 166240 - Type IA

Collagen is normal but not of a high enough quantity:

  • Bones fracture easily, especially before puberty
  • Slight spinal curvature
  • Loose joints
  • Poor muscle tone
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type II

  • OMIM 166210 - Type II

Collagen is not of a sufficient quality or quantity

  • Most cases die before adulthood
  • Severe respiratory problems due to underdeveloped lungs
  • Severe bone deformity and small stature

Type III

  • OMIM 259420 - Type III

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, sometimes even before birth
  • Bone deformity, often severe
  • Respiratory problems possible
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Loose joints
  • Poor muscle tone in arms and legs
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type IV

  • OMIM 166220 - Type IV

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, especially before puberty
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Bone deformity is mild to moderate
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Treatment

At present there is no cure for OI so treatment is aimed at maintaining mobility and strengthening bones as much as possible.

Physiotherapy is used to strengthen muscles and improve motility in a gentle manner which minimises bone breakages. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure. One of the biggest problems is that children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

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Cannabis smokers 'at risk of brittle bone disease'
From Independent, The (London), 5/23/05 by John von Radowitz

Excessive use of cannabis may lead to brittle bones, new research suggests.

Scientists have found that molecules on the surface of bone cells are targeted by cannabis chemicals.

They discovered that drugs which block these cannabinoid receptors may prevent bone loss. But the flip-side to the research is that smoking cannabis is likely to promote osteoporosis.

Professor Stuart Ralston, who led the research at the University of Aberdeen, said: 'We hadn't studied cannabis users, but the work we've done would suggest that if you use a lot of cannabis it could stimulate bone-absorbing cells, and that would be bad.'

The study's findings are published as ministers prepare to review existing cannabis laws.

Receptors are molecules that act like a 'lock' into which other molecules fit. Molecules that affect cells are activated when they bind to specific receptors.

Professor Ralston's team was investigating the way natural cannabinoids in the body attach to receptors to help regulate bone density and turnover.

The 'endogenous' cannabinoids seemed to stimulate the absorption of bone " and it was likely that chemicals in cannabis did the same.

Because the molecules have a similar structure, they are likely to bind to the same receptors, the professor said. 'It is very likely, almost certain,' he said.

Mouse experiments showed that blocking the cannabinoid receptors effectively inhibited bone loss. Conversely, stimulating them with drugs that mimicked the effects of cannabis was detrimental to bone.

'This is an important finding since it demonstrates that the receptors which cannabis acts upon are not only important in the nervous system, but also in the control of bone metabolism,' said Professor Ralston, who is now at the University of Edinburgh.

'That compounds which blocked cannabinoid receptors are highly effective at preventing bone loss is particularly exciting, since it shows that these drugs could provide us with a completely new approach to the treatment of osteoporosis.' The findings appear in the online edition of the journal Nature Medicine.

Professor Ralston, one of Britain's leading osteoporosis experts, said he saw many patients with bone loss who used drugs of various types. But he pointed out that diet, smoking, and other lifestyle issues may also be involved. 'If using cannabis is one of the factors involved, we ought to know about it,' he added.

More than 250,000 people in Britain suffer osteoporosis-related fractures each year, with related health costs exceeding pounds 1.7bn. A spokesman for the National Osteoporosis Society said: 'This looks to be a new area of research and we are not aware that there has been a lot of research into this issue. It is encouraging from our point of view that new areas are being explored in osteoporosis research.'

Health warnings

Cannabis was reclassified from a class B to a class C drug in January 2004. Since then research has revealed new risks.

n A study in Belgium found that cannabis doubles the risk of schizophrenia, hallucination and paranoia among a genetically susceptible group.

n According to the Institute of Psychiatry at King's College London, one in four people carries genes that increase vulnerability to psychosis illness if he or she smokes cannabis as a teenager. Other illnesses such as depression have also been linked to the drug.

n Scientists at Queen's University, Belfast, have warned that use of the drug by men can damage sperm, reducing fertility.

n Researchers in New Zealand have found that heavy cannabis users are ten times more likely to be injured, or to injure others, in car accidents.

Copyright 2005 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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