Research Article Details
Article ID: | A08725 |
PMID: | 32010935 |
Source: | Biosci Rep |
Title: | Letter to the Editor: Comments on "Obesity associated with a novel mitochondrial tRNACys m.5802A>G mutation in a Chinese family". |
Abstract: | In a recent article Wang et al. reported about a 9-year-old Chinese male with obesity, insulin resistance, acanthosis nigricans, hyperuricemia, and non-alcoholic fatty liver disease (NALFD) being attributed to the variant m.5802A>G in tRNA(Cys) (Bioscience Reports (2020) 40(1), BSR20192153). Pathogenicity of the variant was substantiated by documentation of perturbed stability and mobility of the tRNA(Cys). The interesting study has a number of shortcomings, which do not allow drawing conclusions as provided before they are solved. Obesity is multifactorial and many differential causes of mtDNA variants were not discussed or excluded. |
DOI: | 10.1042/BSR20194502 |

Strategy ID | Therapy Strategy | Synonyms | Therapy Targets | Therapy Drugs | |
---|---|---|---|---|---|
S01 | Improve insulin resistance | insulin sensitizer; insulin resistance; glucose tolerance | Biguanide: increases 5-AMP activated protein kinase signaling; SGLT-2 inhibitor; Thiazalidinedione: selective PPAR-γ agonists; GLP-1 agonist | Metformin; Empagliflozin; Canagliflozin; Rosiglitazone; Pioglitazone; Liraglutide | Details |
Diseases ID | DO ID | Disease Name | Definition | Class | |
---|---|---|---|---|---|
I05 | 9352 | Type 2 diabetes mellitus | A diabetes that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://en.wikipedia.org/wiki/Diabetes, http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 | disease of metabolism/inherited metabolic disorder/ carbohydrate metabolic disorder/glucose metabolism disease/diabetes/ diabetes mellitus | Details |
I14 | 9970 | Obesity | An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. https://en.wikipedia.org/wiki/Obesity | disease of metabolism/acquired metabolic disease/ nutrition disease/overnutrition | Details |
I15 | 1290 | Bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. http://en.wikipedia.org/wiki/Bone_disease | disease of anatomical entity/ musculoskeletal system disease/connective tissue disease | Details |