# MEMBRANE CHANGES IN NEUROLOGIC AND AGING DISEASES

> **NIH NIH R01** · TEXAS A&M UNIVERSITY HEALTH SCIENCE CTR · 1989 · $113,754

## Abstract

The purpose of the proposed study is to investigate 3 newly discovered,
unique defects in band 3, the major anion transport and acid-base balance
protein. One of the defects represents a recognized autosomal recessive
disease and is associated with ion and glucose transport abnormalities
and a serious progressive neuropsychiatric disorder (familial amyotrophic
chorea with acanthocytosis). Another disease presents biochemically and
immunologically as accelerated aging of young and middle aged red blood
cells. The reticulocyte count is -20%. The third disease is characterized
by acanthocytosis and increase anion transport. It is called "high-
molecular weight band 3" because there is an addition of several peptides
in the anion transport region. Band 3 is a ubiquitous protein. Like the
RBC proteins spectrin, ankyrin, 4.1, and actin, it is present in brain
and all other cells examined.

The specific aims of this project are to (1) determine what functional
defects are associated with band 3 structural defects; (2) define the
structural defects in terms of band 3 domains and amino acid sequence;
(3) determine alterations in DNA sequence of the band 3 gene of affected
individuals by sequencing regions of the gene which correspond to regions
of the protein which appear altered in the peptide maps of the patient's
band 3 proteins; (4) determine the mode of inheritance of band 3 defects
in kindreds; (5) identify other defects in band 3 in the population.

## Key facts

- **NIH application ID:** 3120061
- **Project number:** 1R01AG008444-01
- **Recipient organization:** TEXAS A&M UNIVERSITY HEALTH SCIENCE CTR
- **SAM.gov UEI:** HFT7XTHB6563
- **Principal Investigator:** MARGUERITE M KAY
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1989
- **Award amount:** $113,754
- **Award type:** 1
- **Project period:** 1989-07-12 → 1992-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3120061

## Citation

> US National Institutes of Health, RePORTER application 3120061, MEMBRANE CHANGES IN NEUROLOGIC AND AGING DISEASES (1R01AG008444-01). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3120061. Licensed CC0.

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