Thursday, 9 June 2022

The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6

You may read the previous postings (Part 1):

- The Rainbow Before Evening : The Mutant Genes in the Early Onset Familial Alzheimer's – Part 1 - Alzheimer's 6



Image 1- Meme from Google, just for fun

The mutant genes in another autosomal dominant forms of Alzheimer's disease were in:

- chromosome 1
- and chromosome 14.

This mutations lead to abnormal Presenilin 1 and Presenilin 2, which modified amyloid precursor protein so that increase amount of toxic form of Aß peptide.

Presenilins are kind of catalytic protease complexes that directly cleave the amyloid precursor protein.



Image 2- Handmade jar, illustration



Image 3- Here, my fav lady who always make me smile (credit to Google)

A person who carrying Presenilin mutation shown an alteration different of variant of amyloid beta peptides in the cerebrospinal fluid.

Mutation of presenil 1 and presenil 2 modify processing of amyloid precursor protein the increasingly of particular toxic form of Aß peptide.

This mutation suspects a heritable form of Alzheimer's disease.

So, the signs of mutant genes that lead to early onset Alzheimer's disease is prominent amyloid deposit in the brain.

The abnormal process of amyloid precursor protein lead to what is called as: extracellular deposit.

The amyloid deposit is characteristic fibrils of amyloid beta peptide.

# Previous postings:

19 comments:

  1. Hello!! Interesting post, thanks for sharing it.

    Blessings!!

    ReplyDelete
  2. Ojalá esta enfermedad algun dia den con la clave, no hay nada peor que tus recuerdos no los recuerdes, es como que te quitan tu propia identidad. Un beso y feliz fin de semana.

    ReplyDelete
  3. Olá amiga!
    Mais um post muito importante aqui nos trazes.
    É sempre bom sabermos um pouco mais sobre esta terrível doença, o Alzheimer.
    Bom fim de semana.
    Beijinhos, e obrigado pela atenção e carinho no meu blogue.

    Mário Margaride

    http://poesiaaquiesta.blogspot.com

    ReplyDelete
    Replies
    1. Thanks to visit my blog-
      The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6
      -
      You may read the previous postings (Part 1):
      - The Rainbow Before Evening : The Mutant Genes in the Early Onset Familial Alzheimer's – Part 1 - Alzheimer's 6

      Delete
  4. Olá amiga!
    Mais um post muito importante aqui nos trazes.
    É sempre bom sabermos um pouco mais sobre esta terrível doença, o Alzheimer.
    Bom fim de semana.
    Beijinhos, e obrigado pela atenção e carinho no meu blogue.

    Mário Margaride

    http://poesiaaquiesta.blogspot.com

    ReplyDelete
  5. Siempre aprendo aquí.
    Gracias.

    Saludos.

    ReplyDelete
    Replies
    1. Thanks to visit my blog-
      The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6
      -
      Image 1- Meme from Google, just for fun

      The mutant genes in another autosomal dominant forms of Alzheimer's disease were in:
      - chromosome 1
      - and chromosome 14.

      This mutations lead to abnormal Presenilin 1 and Presenilin 2, which modified amyloid precursor protein so that increase amount of toxic form of Aß peptide.

      Presenilins are kind of catalytic protease complexes that directly cleave the amyloid precursor protein.

      Delete
  6. I enjoyed reading and knowing. Thank you, friend...
    I invite you to participate in my 'post' in praise of Portugal, on its National Day.
    Have a nice weekend.

    ReplyDelete
  7. Interessante . É preciso abordar estes assuntos!
    .
    Quando um olhar se sente perdido.

    Beijos. Votos dum bom fim de semana

    ReplyDelete
  8. Thanks for sharing this important info. It's always beneficial to learn more information on these issues.

    ReplyDelete
    Replies
    1. Thanks to visit my blog-
      The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6
      -
      Image 3- Here, my fav lady who always make me smile (credit to Google)

      A person who carrying Presenilin mutation shown an alteration different of variant of amyloid beta peptides in the cerebrospinal fluid.

      Mutation of presenil 1 and presenil 2 modify processing of amyloid precursor protein the increasingly of particular toxic form of Aß peptide.

      This mutation suspects a heritable form of Alzheimer's disease.

      So, the signs of mutant genes that lead to early onset Alzheimer's disease is prominent amyloid deposit in the brain.

      The abnormal process of amyloid precursor protein lead to what is called as: extracellular deposit.

      The amyloid deposit is characteristic fibrils of amyloid beta peptide.

      # Previous postings:
      - When the Georgian Chicken Came to My Kitchen – Part 1 – Food 12
      - May Smartphones Lead You Older Quickly? - Part 2 – Health Life 18
      - A Bird on the Exit Sign in the Library – Part 1

      Delete
  9. Thanks for sharing this important info. It's always beneficial to learn more information on these issues.

    ReplyDelete
  10. Sin duda interesante que este tema no se olvide. Un abrazo.

    ReplyDelete
  11. Hi!
    A genetically determined degenerative disease. Oh God! What can we do to stop it from advancing? Always an unknown for me as a layman. Mental alienation is a suffering for the patient but also for the family.
    kisses,

    ReplyDelete
    Replies
    1. Thanks to visit my blog-
      The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6
      -
      You may read the previous postings (Part 1):
      - The Rainbow Before Evening : The Mutant Genes in the Early Onset Familial Alzheimer's – Part 1 - Alzheimer's 6

      Delete
  12. Questo maledetto male oscuro , che in tre anni si è portato via mio padre...ho ancora negli occhi lacrime da asciugare, ho ancora nel cuore una ferita da rimarginare , ho ancora nell'anima i suoi occhi quando in pronto soccorso quella notte ... è mancato.
    Scusa , per questo mio pensiero triste .
    Un saluto e grazie di essere passato da me.
    Buona notte
    Rosy

    ReplyDelete
    Replies
    1. Thanks to visit my blog-
      The Mutant Genes in the Early Onset Familial Alzheimer's – Part 2 - Alzheimer's 6
      -

      Delete
    2. Ciao e grazie per aver risposto .
      Andrò a leggermi bene tutti i tuoi post che parlano di Alzheimer!

      Un saluto,buon weekend

      Rosy

      Delete

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