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What is SOD1 and what is its role in ALS?

What is SOD1 and what is its role in ALS?

The canonical role of superoxide dismutase 1 (SOD1) is as an antioxidant enzyme protecting the cell from reactive oxygen species toxicity. SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago.

What is SOD1 in ALS?

Abstract. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss. Some familial cases (fALS) are linked to mutations of superoxide dismutase type-1 (SOD1), an antioxidant enzyme whose activity is preserved in most mutant forms.

What is SOD1 mediated?

Amyotrophic lateral sclerosis (ALS) is an adult-onset, lethal, paralytic disorder caused by the degeneration of motor neurons. Our understanding of this disease has been greatly facilitated by studies of familial ALS caused by mutations in the gene encoding superoxide dismutase 1 (SOD1).

How can the client and his family be supported in coping with ALS?

Engage Family and Friends. Life with ALS can trigger overwhelming emotional reactions. Keep lines of communication open, so that you are comfortable expressing your feelings. Encourage your family and friends to express their feelings as well.

Why is SOD1 important?

This enzyme serves to keep cells safe from metabolic waste that can do damage if not rendered harmless. SOD1 converts reactive oxygen to harmless water. A copper ion held within the enzyme carries out this chemical change. A zinc atom is also important to the enzyme’s function.

What does SOD1 mutation do?

The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.

How does SOD1 cause ALS?

It is widely accepted that a hallmark of SOD1-associated ALS is the deposition of SOD1 into insoluble aggregates in motor neurons, probably due to a consequence of structural destabilisation and/or oxidative damage induced by gene mutations which in turn contribute to the misfolding and aggregation of SOD1 into …

Where is SOD1 located?

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21.

How do I become a caregiver for ALS?

Caregiving Tips and Hints

  1. Take Care of Yourself. Caregivers often do not get adequate personal time.
  2. Care Connection.
  3. Ask for Help.
  4. Be Aware of Depression.
  5. Value Yourself.
  6. Manage Your Stress.
  7. Educate Yourself.
  8. Know You Are More Than a Caregiver.

How can you help a friend with ALS?

Call your loved one to chat—even if it may feel hard to pick up the phone. Or schedule a video call. Send the occasional card, email, text, or small gift. Whether it’s volunteering, fundraising, donating, or becoming an advocate, there are many ways to get involved in the broader fight against ALS.

Why does SOD1 mutation cause ALS?

Why does SOD1 cause ALS?