Gene Mutation
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2022 ◽  
Vol 30 ◽  
pp. 100830
L. Lenzini ◽  
M. Carecchio ◽  
E. Iori ◽  
A. Legati ◽  
E. Lamantea ◽  

2022 ◽  
Vol 42 (3) ◽  
pp. 363-366
Sang Hyuk Park ◽  
Hyun-Ki Kim ◽  
Hang Kang ◽  
Jung Heon Kim ◽  
Jaeseung Lee ◽  

2022 ◽  
Vol 10 (2) ◽  
pp. 607-617
Wen-Xin Lin ◽  
Ying-Ying Chai ◽  
Ting-Ting Huang ◽  
Xia Zhang ◽  
Guo Zheng ◽  

2022 ◽  
Vol 9 (1) ◽  
pp. 182-188
Aprilla Berlianti ◽  
I Wayan Surudarma ◽  
Ida Ayu Dewi Wiryanthini

Introduction: Diabetic retinopathy is one of the chronic complications in patients with diabetes mellitus caused by progressive microangiopathy. Various types of risk factors can affect the occurrence of diabetic retinopathy, one of which is mitochondrial DNA mutations in the tRNAleu A3243G gene that is common in T2DM. This study was conducted with the aim to identify whether the mutation of the tRNAleu A3243G gene acts as a risk factor for diabetic retinopathy in T2DM patients in Bali. Material and Methods: This study used a case control design with 35 T2DM patients with diabetic retinopathy and 35 T2DM patients without diabetic retinopathy. The techniques used to identify these mutations are PCR and DNA sequencing. Results: Based on the results obtained, no mutations were found in the tRNAleu A3243G gene in the entire sample. Therefore, the relationship analysis of the two variables cannot be identified. Conclusions: Mutations of the tRNAleu A3243G gene that were not successfully identified in this study can be concluded not play a role as a risk factor for diabetic retinopathy. Keywords: Diabetic Retinopathy, Diabetes Mellitus, tRNAleu Gene Mutation, Mitochondrial DNA.

2022 ◽  
Zhaoling Wang ◽  
MeiPing Lu

Abstract Rationale: Blau syndrome (BS) is a chronic auto-inflammatory granulomatous disorder associated with the nucleotide-binding oligomerization domain-containing 2 (NOD2) gene mutations. Gene mutation is one cause of congenital hyperuricemia, However, the relationship between NOD2 and hyperuricemia was unknown. Patient concerns: A 3.5-year-old girl was admitted to hospital because of pain in the left calf and red eyes, otherwise, she suffered from skin rash, and skin cysts in the wrist and ankle joints before.Diagnoses: The girl was diagnosed with sporadic BS (SBS) accompanied with congenital hyperuricemia according to her clinical presentation and gene mutation.Interventions: The patient received prednisolone combined with adalimumab and methotrexate for controlling SBS. Oral febuxostat to alleviate uric acid levels. Outcomes: Her serum uric acid decreased to normal levels after 2 weeks with oral febuxostat tablet. Four months following the treatment, the number of cysts was decreased and ocular damage was not progressed. Lessions: Blau syndrome is a relatively new entity that clinical spectrum continues to expand. This patient provides some information, which would be assist the diagnosis.

2022 ◽  
Vol 22 (1) ◽  
ChangZhi Liu ◽  
WeiRan Zhou ◽  
QuanE Liu ◽  
ZaiXin Peng

Abstract Background Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally. Case presentation We report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.412C > G variant that could cause complex oxidative phosphorylation deficiency and had not been reported before was identified. The clinical manifestations included recurrent vomiting, hypoglycemia, lactic acidosis, sensorineural hearing loss, and gall bladder calculi. Hypoglycemia and lactic acidosis improved after the administration of sugary liquid and supportive treatments. Conclusions Recurrent hypoglycemia with lactic acidosis and sensorineural hearing loss should lead to suspicion of mitochondrial defects and the early refinement of genetic tests.

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