Kennedy’s Disease: focus on muscle damage reveals key biomarker

Findings from the largest biomarker study of people with Kennedy’s Disease, published in the journal Neurology, found a predictive biomarker to help in differential diagnosis and tracking clinical progression. Led by Dr Pietro Fratta from University College London, the research team highlighted the importance of markers of muscle mass rather than neuronal damage in Kennedy’s Disease, differentiating it from the slightly more common motor neurone disease (MND).

Kennedy’s Disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare genetic condition that leads to progressive weakening and wasting of muscles, particularly affecting the limbs and bulbar region. Caused by a mistake on the AR (androgen receptor) gene (positioned on the X chromosome), this condition mainly affects males, with a 50% chance of receiving the affected gene from their mothers (women can only be carriers of the genetic mistake without developing the disease).

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Lighthouse Project shines a beacon on HERVs and their role in ALS

There is recent evidence to suggest that Human Endogenous Retroviruses (HERVs) may be involved in amyotrophic lateral sclerosis (ALS). HERV-K has been directly linked to motor neurone damage and has been found in the brain tissue of patients with ALS.

The MND Association recently awarded a small grant to fund part of the ‘Lighthouse Project’ which is investigating the safety and any beneficial effects of an antiretroviral drug on ALS symptoms.Read More »