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Why are neurodegenerative diseases so complex and devastating?

Image by Josh Appel

Neurodegenerative Diseases

Neurodegenerative diseases impact millions of people worldwide, causing the nerve cells in the brain or periphery systems to lose functional ability over time resulting in cell death. The likelihood of developing a neurodegenerative disease increases significantly with age, and current treatments only serve to relieve some of the mental and physical symptoms of disease - no effective slowdown of progression or cures exist. 

Current approaches to understanding neurodegenerative diseases and subsequently developing effective therapeutics are severely lacking due to the methods used to identify suitable targets and biomarkers.

Neurodegenerative diseases are inherently extremely complex, and thus require a similarly more measured response from drug discovery and development initiatives to be able to fight these diseases.

Recent scientific evidence strongly suggests a crucial link between both the nuclear pore complex and nucleocytoplasmic transport and aging - something that we at PurMinds are actively exploring.

Huntington's Disease (HD)

HD is the most common monogenic (variation in a single gene) neurological disorder, and is caused by a faulty gene, resulting in parts of the brain becoming increasingly damaged as time passes. It is a rare genetic disease that has a large impact on functional abilities and progressively worsens over time. Current treatments can only address the symptoms of HD, no treatments have been able to slow the progression or cure HD.

Compelling scientific evidence from various groups has demonstrated that the nuclear pore complex is severely disrupted in HD, along with a defect in the nucleocytoplasmic transport.

A group led by our own Chief Scientific Officer, Dr. Grima, was awarded the Neuroscience Young Investigator's Day award in 2017 for this discovery.

Huntington's Disease (HD)

HD is the most common monogenic (variation in a single gene) neurological disorder, and is caused by a faulty gene, resulting in parts of the brain becoming increasingly damaged as time passes. It is a rare genetic disease that has a large impact on functional abilities and progressively worsens over time. Current treatments can only address the symptoms of HD, no treatments have been able to slow the progression or cure HD.

Compelling scientific evidence from various groups has demonstrated that the nuclear pore complex is severely disrupted in HD, along with a defect in the nucleocytoplasmic transport.

A group led by our own Chief Scientific Officer, Dr. Grima, was awarded the Neuroscience Young Investigator's Day award in 2017 for this discovery.

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M. B. Veldman and X. W. Yang, “Huntington’s disease: Nuclear gatekeepers under attack,” Neuron, vol. 94, no. 1, pp. 1–4, 2017.

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B. W. Fox and R. S. Tibbetts, “Problems at the Nuclear Pore,” Nature, vol. 525, no. 7567, pp. 36–37, 2015.

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

ALS is a progressive neurodegenerative disease that results in loss of motor function through progressive degeneration of motor neurons in the brain and spinal cord. Some patients with ALS might also develop FTD, another neurodegenerative disease and a common cause of dementia in people under the age of 60.

Recent evidence from independent scientific studies on ALS and FTD suggest that defects in the nuclear pore complex and nucleocytoplasmic transport might be playing an impactful role in the pathogenesis of ALS and FTD.

Alzheimer's Disease (AD)

AD is a progressive neurodegenerative disease that is the most common form of dementia. It typically begins with mild memory loss that worsens over time, leading to severe cognitive decline. Currently, AD is the sixth leading cause of death in the United States, and upon diagnosis, survival rates typically range anywhere between four and twenty years. Scientific identifiers in AD include amyloid beta plaques and hyperphosphorylated Tau protein.

Scientific evidence has established a link between tau-mediated neurodegeneration in AD and defects in both the nuclear pore complex and nucleocytoplasmic transport.

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B. Eftekharzadeh et al, “Tau protein disrupts nucleocytoplasmic transport in alzheimer’s disease,” Neuron, vol. 101, no. 2, p. 349, 2019.

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E. N. Anderson et al, “Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology,” eLife, vol. 10, 2021.

Traumatic Brain Injury (TBI)

TBI can occur when a sudden external physical force damages the brain, and is one of the more common causes of disability and death in adults. The severity of a TBI can range from mild concussions to comas or even death. Possible results from TBIs include cognitive defects, motor deficits, perceptual or sensory deficits, communication deficits and many more. 

Recent scientific data has supported a link between Traumatic Brain injury and defects in both the nuclear pore complex and nucleocytoplasmic transport.

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Image by Josh Appel

Neurodegenerative Diseases

Understanding complex and devastating neurodegenerative diseases

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Traffic Jams in  Neurodegeneration

How exciting is the linkage between both the NPC and NCT with neurodegeneration?

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