Biomarkers for mitochondrial and metabolic disorders

Patent metadata

Field	Value
Publication number	US-2024257909-A1
Application number	US-202418425248-A
Country	US
Kind code	A1
Filing date	Jan 29, 2024
Priority date	Jan 27, 2023
Publication date	Aug 1, 2024
Grant date	—

Abstract

Embodiments of the present disclosure pertain to methods of assessing one or more mitochondrial or metabolic disorders in a subject by receiving one or more measured biomarker levels of the subject and correlating differentially expressed levels of the one or more measured biomarkers to one or more mitochondrial or metabolic disorders in the subject. Such methods may also include a step of making a treatment decision based on the assessment. Additional embodiments of the present disclosure pertain to a computing device for assessing one or more mitochondrial or metabolic disorders in a subject in accordance with the methods of the present disclosure.

First claim

1 . A method of assessing one or more mitochondrial or metabolic disorders in a subject, said method comprising:
receiving one or more measured biomarker levels of the subject, wherein the one or more measured biomarker levels is selected from the group consisting of putrescine, N-acetyl putrescine, N-acetyl ornithine, N-acetyl spermidine, N-acetyl arginine, gamma amino butyric acid (GABA), opthalmic acid, S-adenosyl methionine, creatine, or combinations thereof; and correlating differentially expressed levels of the one or more measured biomarkers to the one or more mitochondrial or metabolic disorders in the subject.

2 . The method of claim 1 , wherein the one or more mitochondrial or metabolic disorders is selected from the group consisting of mitochondrial diseases; metabolic diseases; obesity; cancer; neurodegenerative diseases; age-related neurodegenerative diseases; pediatric neurodegenerative diseases; immune disorders; diabetes; host-parasite infections; cardiovascular disease; Leigh syndrome (LS); Mitochondrial Encephalopathy, Lactic acidosis, Stroke-like episodes (MELAS); Kearns-Sayre Syndrome (KSS); Pearson Syndrome (PS); exercise intolerance syndrome; Alzheimer's disease; Parkinson's disease; multiple organ dysfunction syndrome; sepsis; fatty liver disease; kidney disease; hirsutism; African sleeping sickness; Synder Robinson syndrome; osteoporosis; Huntington's disease; multiple sclerosis; periodontitis; or combinations thereof.

3 . The method of claim 1 , wherein the one or more measured biomarker levels comprises putrescine, N-acetyl putrescine, N-acetyl ornithine, N-acetyl spermidine, N-acetyl arginine, gamma amino butyric acid (GABA), opthalmic acid, S-adenosyl methionine, and creatine.

4 . The method of claim 1 , wherein the differentially expressed levels of the one or more biomarkers represent elevated levels of the one or more biomarkers, depressed levels of the one or more biomarkers, or combinations thereof.

5 . The method of claim 1 , wherein the differentially expressed levels of the one or more biomarkers represent elevated levels of the one or more biomarkers.

6 . The method of claim 1 , wherein the subject is a human being.

7 . The method of claim 1 , wherein the correlating comprises diagnosing the subject with the one or more mitochondrial or metabolic disorders.

8 . The method of claim 1 , wherein the correlating comprises assessing the severity of the one or more mitochondrial or metabolic disorders in the subject.

9 . The method of claim 1 , wherein the correlating occurs automatically through the utilization of an algorithm.

10 . The method of claim 9 , wherein the algorithm comprises a machine-learning algorithm, wherein the machine-learning algorithm is trained to assess one or more mitochondrial or metabolic disorders in the subject based on the one or more measured biomarker levels.

11 . The method of claim 1 , further comprising a step of making a treatment decision based on the assessment.

12 . The method of claim 11 , wherein the treatment decision comprises monitoring the course of the one or more mitochondrial or metabolic disorders, administering a therapeutic agent to the subject, or combinations thereof.

13 . The method of claim 11 , wherein the treatment decision comprises administering a therapeutic agent to the subject.

14 . The method of claim 11 , further comprising a step of implementing the treatment decision.

15 . A computing device for assessing one or more mitochondrial or metabolic disorders in a subject, wherein the computing device comprises one or more computer readable storage mediums having a program code embodied therewith, wherein the program code comprises programming instructions for:
receiving one or more measured biomarker levels of the subject, wherein the one or more measured biomarker levels is selected from the group consisting of putrescine, N-acetyl putrescine, N-acetyl ornithine, N-acetyl spermidine, N-acetyl arginine, gamma amino butyric acid (GABA), opthalmic acid, S-adenosyl methionine, creatine, or combinations thereof; and correlating differentially expressed levels of the one or more measured biomarkers to the one or more mitochondrial or metabolic disorders in the subject.

16 . The computing device of claim 15 , wherein the program code further comprises an algorithm for the correlating.

17 . The computing device of claim 16 , wherein the algorithm comprises a machine-learning algorithm, wherein the machine-learning algorithm is trained to assess one or more mitochondrial or metabolic disorders in the subject based on the one or more measured biomarker levels.

18 . The computing device of claim 15 , wherein the program code further comprises programming instructions for diagnosing the subject with the one or more mitochondrial or metabolic disorders based on the correlating.

19 . The computing device of claim 15 , wherein the program code further comprises programming instructions for assessing the severity of the one or more mitochondrial or metabolic disorders in the subject based on the correlating.

20 . The computing device of claim 15 , wherein the program code further comprises programming instructions for making a treatment decision based on the assessment.

21 . The computing device of claim 20 , wherein the treatment decision comprises monitoring the course of the one or more mitochondrial or metabolic disorders, administering a therapeutic agent to the subject, or combinations thereof.

22 . The computing device of claim 20 , wherein the treatment decision comprises administering a therapeutic agent to the subject.

23 . The computing device of claim 20 , wherein the one or more measured biomarker levels comprises putrescine, N-acetyl putrescine, N-acetyl ornithine, N-acetyl spermidine, N-acetyl arginine, gamma amino butyric acid (GABA), opthalmic acid, S-adenosyl methionine, and creatine.

Assignees

• Univ Arkansas

Inventors

• Iyer Shilpa
• Rao Raj R
• Agrawal Shilpi

Classifications

• G16B25/10 Primary

  Gene or protein expression profiling; Expression-ratio estimation or normalisation · CPC title

• G16B20/20

  Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection · CPC title

• G16B40/20

  Supervised data analysis · CPC title

• G16H50/20 Primary

  for computer-aided diagnosis, e.g. based on medical expert systems · CPC title