Method for treating pulmonary fibrosis using s100a3 protein

a pulmonary fibrosis and s100a3 technology, applied in the field of molecular genetics, diagnostic and therapeutic medicine, pharmacology, etc., to achieve the effect of restoring the normal calcium response and reducing the expression of the protein

Inactive Publication Date: 2020-04-09
KING FAISAL SPECIALIST HOSPITAL & RES CENT
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  • Abstract
  • Description
  • Claims
  • Application Information

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Benefits of technology

[0008]The invention involves treatment of lung fibrosis and respiratory failure using S100A3 protein in subjects that lack functional S100A3 protein, such as a homozygous subject carrying missense variant rs138355706, (229C>T). As shown herein the inventors identified a homozygous variant in a previously unreported gene coding for the calcium binding protein S100A3, segregating in the 3 patients afflicted and 13 additional family members who were either heterozygous carriers or wild-type normal for the variant. Indirect immunofluorescence and Western blots demonstrated decreased expression of the protein in the lungs of patients and in cells isolated from the patient's skin. This was concomitant with aberrant calcium homeostasis in isolated patient's fibroblasts. The introduction of wild type gene in the patient's cells restored their normal calcium responses. Furthermore, the introduction of the mutant transcript caused aberrant calcium homeostasis that was similar to that of seen in patient's cells.

Problems solved by technology

This was concomitant with aberrant calcium homeostasis in isolated patient's fibroblasts.

Method used

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  • Method for treating pulmonary fibrosis using s100a3 protein
  • Method for treating pulmonary fibrosis using s100a3 protein
  • Method for treating pulmonary fibrosis using s100a3 protein

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[0072]The following Example illustrates various aspects of the present invention. They are not to be construed to limit the claims in any manner whatsoever.

[0073]Brief Case Description.

[0074]Three siblings, two girls and one boy, from a total of seven children were born healthy to consanguineous Saudi Arabian parents after normal pregnancies and deliveries (see chart in FIG. 1A). The parents did not report any medical problems until all three children developed respiratory fibrosis at a young age. All 3 affected siblings had an identical clinical presentation and course. They all developed dyspnea in their early teens and apart from the lung abnormalities, complete and extensive medical examinations revealed normal appearance, development and laboratory findings.

[0075]Pulmonary function testing showed severe restriction and impaired oxygen transfer (FIG. 2B) and fibrosis with a non-specific pattern was revealed by chest CT imaging (FIG. 2A). The subjects had extensive medical invest...

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Abstract

The invention is directed to a method for diagnosing and treating a pulmonary lung disease by detecting a mutant S100A3 protein associated with pulmonary lung disease and by treating a subject with a functional S100A3 protein.

Description

REFERENCE TO A SEQUENCE LISTING[0001]In accordance with 37 CFR § 1.52(e)(5), the present specification makes reference to a Sequence Listing submitted electronically as a .txt file named “513629US_ST25.txt” on Oct. 9, 2018. The .txt file was generated on Sep. 19, 2018 and is 9 kb in size. The entire contents of the Sequence Listing are herein incorporated by reference.BACKGROUNDField of the Invention[0002]The invention involves the fields of molecular genetics, diagnostic and therapeutic medicine, and pharmacology.Description of Related Art[0003]The “background” description provided herein is for the purpose of generally presenting a context for the disclosure. Work of the presently named inventor(s), to the extent it is described in this background section, as well as aspects of the description which may not otherwise qualify as prior art at the time of filing, are neither expressly or impliedly admitted as prior art against the present invention.[0004]The Interstitial Lung Disease...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): A61K38/17A61P11/00C12N15/52A61P9/04C07K14/47
CPCA61P9/04A61P11/00C07K14/4728C12N15/52A61K38/1738
Inventor AL MUTAIRY, EID ABDULLAHKHALID, MOHAMMEDAL-MOHANNA, FUTWAN
Owner KING FAISAL SPECIALIST HOSPITAL & RES CENT
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