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GRNMUTATION

There are 3 papers on GRNMUTATION in aging research: 3 observational studies in people.

Gene

3 papers study it4 findings

See all 3

“DBScapillary progranulin levels in GRN mutation carriers (mean [SD] age, 55 [13] years; n = 16) were reduced compared to non-mutation carriers”
The detection of GRN mutation carriers by progranulin blood protein levels from finger-stick collectionAlzheimer's & dementia : the journal of the Alzheimer's Association2024doi:10.1002/alz.14259

None of its findings points the other way.

C, W, M, H: cells, worms or flies, mice, humans. Dark: independent labs found the same change there. Light: one lab or one study. Outline: nothing yet.

Labs are independent when their papers share no last author and no institution.

Company ties: findings with an author at a company, or from a paper whose competing-interests statement declares ties to one.

Includes the processes named after it and trials of drugs aimed at it.

  • 3 independent labs in 5 countries
  • Funders: Japan Society for the Promotion of Science and others
  • 1 of 4 findings with company ties
  • Humans3

Effects

3

Dried blood spot progranulin levels

downin humans1

1 study

  1. GRNMUTATION is linked with lower dried blood spot progranulin levels in humans (heterozygous pathogenic mutation carriers versus non-mutation carriers) (2.38 ng/mL (SD 1.0) vs 4.37 ng/mL (SD 0.68); U = 42; p < 0.0001).

    “DBScapillary progranulin levels in GRN mutation carriers (mean [SD] age, 55 [13] years; n = 16) were reduced compared to non-mutation carriers”

    Humansheterozygous pathogenic mutation carriers versus non-mutation carriersdried blood spots from capillary finger-stick collectionn = 44

    The detection of GRN mutation carriers by progranulin blood protein levels from finger-stick collection

    Alzheimer's & dementia : the journal of the Alzheimer's Association

More on Dried blood spot progranulin levels

Prosaposin

no changein humans1

1 study

  1. GRNMUTATION was not clearly linked with prosaposin in humans (frontotemporal dementia with GRN mutations).

    “while PSAP signal was preserved”

    Humansfrontotemporal dementia with GRN mutationsbrain

    Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease

    Journal of neuropathology and experimental neurology

More on Prosaposin

Progranulin

downin humans1

1 study

  1. GRNMUTATION is linked with lower progranulin in humans (frontotemporal dementia with GRN mutations) (almost complete absence of PGRN in most neurons).

    “The GRN mutation cases exhibited almost complete absence of PGRN in most neurons”

    Humansfrontotemporal dementia with GRN mutationsbrain

    Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease

    Journal of neuropathology and experimental neurology

More on Progranulin

Associations

1

Mental processing speed

downin humans1

1 study

  1. GRNMUTATION is associated with mental processing speed in humans (at baseline, versus healthy controls).

    “At baseline, GRN mutation carriers showed lower scores on mental processing speed than healthy controls (p = 0.043).”

    Humansat baseline, versus healthy controls

    Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study

    Neurology

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