Adapted from Medscape 20 June 2022 and 24 June 2022
Throughout my professional career, doctors have never known why some people develop Motor Neurone Disease. This is a devastating condition which leaves the brain intact but weakens the musculature of the body so that most people will have progressive weakness leading to respiratory failure and usually a death from pneumonia within a few years.
Andrew Crosby from Exeter University and others report that a specific gene TMEM63C, affects lipid and cholesterol processing pathways inside brain cells. The area of metabolic dysfunction is between the endoplasmic reticulum and mitochondria.
Dr Julien Prudent PhD states that it is necessary for different organelles within our cells to communicate together by exchanging lipids for example is critical to ensure cellular homeostasis to prevent disease.
There are also other genes known to cause Motor Neurone Disease. It is hoped that more effective diagnostic tools and treatments will eventually have an effect on the impact of the condition in people’s lives.
In another study scientists have discovered a genetic link that shows why some patients develop pain and early failure of their joint replacements.
Cobalt chrome (CoCr) is used in about 70% of artificial joints that are implanted throughout the world.
When a joint replacement fails it causes pain, tissue damage and repeat surgery.
Dr David Langton from Newcastle University explains that a large percentage of joint failures are caused when wear and tear cause small particles from the joint implant to be released into the blood stream and stimulate an immune response in the body. The action is similar to when a person with an organ transplant rejects it. Up until know the reason why some joints are rejected has been unpredictable and unknown.
It has been found that people with some HLA genotypes are at greater risk of CoCr metal sensitivity. This amounts to 10% of the European population.
A collaboration between centres in Newcastle, New York and Perth Australia have produced a machine learning tool called Orthotype which can predict which patients are at higher risk of joint rejection prior to surgery by scanning the patient’s genotype.
In future a great deal of patient misery and expense could be prevented by routine blood testing prior to joint replacement to allow the surgeon to choose the best implant for the individual patient.
At the moment about 10% of the UK population will undergo at least one joint replacement. This number is expected to increase if our weight problems increase too.