GM03722

GM03722 Fibroblast from Skin, Arm

Description:

MUCOPOLYSACCHARIDOSIS TYPE VI

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; bilateral corneal clouding; 3cm liver; prominent eyes, forehead, and tongue; widely-spaced peg-like teeth; flat nasal bridge; joint contractures (knees-20 degrees, elbows-10 degrees); lumbar lordosis; externally rotated femurs; slightly stiff and swollen fingers; 5% of normal arylsulfatase B activity, consistent with homozygosity; family history reveals that parents are related through their grandfather; unaffected mother (GM03720-fibro, GM03721-lymph); unaffected father (GM03724-fibro, GM03725-lymph); unaffected sister (GM03726-fibro) and unaffected half-siblings (not in repository); see GM03723 lymphoid (same donor).

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

N-acetylgalactosamine-4-sulfatase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12; 5% activity.

Remarks

Cyske Z, Gaffke L, Pierzynowska K, Wegrzyn G, Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes Genes13: 2022

PubMed ID: 35456399

Gaffke L, Szczudlo Z, Podlacha M, Cyske Z, Rintz E, Mantej J, Krzelowska K, Wegrzyn G, Pierzynowska K, Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies Metabolic brain disease37:299-310 2021

PubMed ID: 34928474

Pierzynowska K, Zabinska M, Gaffke L, Cyske Z, Wegrzyn G, Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells European journal of cell biology101:151232 2021

PubMed ID: 35537249

Gaffke L, Pierzynowska K, Rintz E, Cyske Z, Giecewicz I, Wegrzyn G, Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses International journal of molecular sciences22:151232 2020

PubMed ID: 33803318

Gaffke L, Pierzynowska K, Krzelowska K, Piotrowska E, Wegrzyn G, Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses Metabolic brain disease22:151232 2020

PubMed ID: 32886284

Pierzynowska K, Gaffke L, Podlacha M, Wegrzyn G, Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies International journal of molecular sciences21:151232 2019

PubMed ID: 32050523

Gaffke L, Pierzynowska K, Podlacha M, Hoinkis D, Rintz E, Brokowska J, Cyske Z, Wegrzyn G, Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies International journal of molecular sciences21:151232 2019

PubMed ID: 32054071

Brokowska J, Pierzynowska K, Gaffke L, Rintz E, Wegrzyn G, Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses Cell biology international21:151232 2019

PubMed ID: 32125037

dbSNP

dbSNP ID: 19940

Gene Ontology

GO:0003943 N-acetylgalactosamine-4-sulfatase activity

GO:0004065 arylsulfatase activity

GO:0005509 calcium ion binding

GO:0005764 lysosome

GO:0007041 lysosomal transport

GO:0008152 metabolism

GO:0016787 hydrolase activity

GO:0030203 glycosaminoglycan metabolism