Dear KD Family, 

In this time of the Coronavirus pandemic, we at the KDA would like to urge extra caution for those with Kennedy’s Disease.  The Coronavirus can cause lower respiratory congestion, which is difficult for some people with KD to deal with, since we have trouble producing productive coughs. If you are someone with respiratory difficulties, or are age 60 or older, we would include you in the higher risk population.

Please adhere to the recommendations by the Center for Disease Control on ways to prevent exposure to the Coronavirus, as this is your best defense. The CDC tells us that: The virus is thought to spread mainly from person-to-person (within about 6 feet) through respiratory droplets produced when an infected person coughs or sneezes. These droplets can land in the mouths or noses of people who are nearby or possibly be inhaled into the lungs.

It is recommended that you avoid close contact with people and large gatherings. Also, wash your hands frequently and avoid touching your face.  To see more in depth information, click on the link to see the information the CDC has provided to help prevent infection. 

In the interest of learning from your experience, we ask that you or a care provider contact the KDA if you test positive for the Coronavirus. Continue to live your lives, but do so in a way that keeps you and your loved ones at minimal risk. We wish you health and freedom from fear. 

Sincerely, 

The Board of Directors of the KDA

The NIH-funded Rare Diseases Clinical Research Network is conducting an online research survey to understand the impacts of Covid-19 on the rare disease community. 

To better understand how individuals with rare diseases and their families are impacted by the COVID-19 pandemic, the NIH-funded Rare Diseases Clinical Research Network developed a twenty minute online research survey from home. This survey will provide an opportunity for rare disease patients and caregivers to share their experiences and help researchers learn more about community needs during a time of crisis. Learn more about this survey by clicking here.

Muscle BDNF improves synaptic and contractile muscle strength in Kennedy's disease mice in a muscle‐type specific manner.

We report that a muscle‐derived neurotrophic factor, BDNF, rescues synaptic and muscle function in a muscle‐type specific manner in mice modelling Kennedy's disease (KD). We also find that BDNF rescues select molecular mechanisms in slow and fast muscle that may underlie the improved cellular function. We also report for the first time that expression of BDNF, but not other members of the neurotrophin family, is perturbed in muscle from patients with KD. To read the article, click here.

MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease

We find no evidence to suggest dysfunction of signaling pathways that trigger muscle hypertrophy or impairment of the muscle stem cell niche. Instead, we find that skeletal muscle atrophy is characterized by diminished function of the transcriptional regulator Myocyte Enhancer Factor 2 (MEF2), a regulator of myofiber homeostasis. Decreased expression of MEF2 target genes is age- and glutamine tract length-dependent, occurs due to polyQ AR proteotoxicity, and is associated with sequestration of MEF2 into intranuclear inclusions in muscle. To read the article, click here.

Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives

We tested the natural alkaloid berberine (BBR) and some derivatives for their capability to enhance misfolded protein clearance in cell models of NDs, evaluating which degradative pathway mediates their action. Results: We found that both BBR and its semisynthetic derivatives promote degradation of mutant androgen receptor (ARpolyQ) causative of spinal and bulbar muscular atrophy, acting mainly via proteasome and preventing ARpolyQ aggregation. To read the article, click here.

Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice

To fully characterise the role of muscle in SBMA, we undertook a longitudinal physiological and histological characterisation of disease progression in the AR100 mouse model of SBMA. Our results show that the disease first manifests in skeletal muscle, prior to any motor neuron degeneration, which only occurs in late stage disease. These findings reveal alterations in muscle function, including reduced muscle force and changes in contractile characteristics, are early pathological events in SBMA mice and suggest that muscle-targeted therapeutics may be effective in SBMA. To read the article. Click here.