Diabetes & Metabolism Journal

Seong Yeon Kim (Kim SY)

3 Articles

Genetics
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing: Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park; Diabetes Metab J. 2015;39(5):439-443. Published online October 22, 2015; DOI: https://doi.org/10.4093/dmj.2015.39.5.439

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Background

Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea using whole exome sequencing.

Methods

Exome capture was done using SureSelect Human All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis.

Results

A 21-year old Korean woman was clinically diagnosed with Alström syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of ALMS1 (c.8776C>T, p.R2926X) and a seven base-pair deletion resulting in frameshift mutation in exon 8 (c.6410_6416del, p.2137_2139del). A 24-year-old Korean man had Bardet-Biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly. Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the BBS1 gene (c.1061A>G, p.E354G) and mutation at the normal splicing recognition site of exon 7 of the BBS1 gene (c.519-1G>T).

Conclusion

We found novel compound heterozygous mutations of Alström syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes.

Citations

Citations to this article as recorded by

Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
Brais Bea-Mascato, Diana Valverde
Journal of Medical Genetics.2024; 61(1): 18. CrossRef
Differentiating monogenic and syndromic obesities from polygenic obesity: Assessment, diagnosis, and management
Angela K. Fitch, Sonali Malhotra, Rushika Conroy
Obesity Pillars.2024; 11: 100110. CrossRef
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
Naglaa M. Kamal, Ahmed N. Sahly, Babajan Banaganapalli, Omran M. Rashidi, Preetha J. Shetty, Jumana Y. Al-Aama, Noor A. Shaik, Ramu Elango, Omar I. Saadah
Saudi Journal of Biological Sciences.2020; 27(1): 271. CrossRef
Established and emerging strategies to crack the genetic code of obesity
V. Tam, M. Turcotte, D. Meyre
Obesity Reviews.2019; 20(2): 212. CrossRef
Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population
Seung Shin Park, Se Song Jang, Chang Ho Ahn, Jung Hee Kim, Hye Seung Jung, Young Min Cho, Young Ah Lee, Choong Ho Shin, Jong Hee Chae, Jae Hyun Kim, Sung Hee Choi, Hak C Jang, Jee Cheol Bae, Jong Cheol Won, Sung-Hoon Kim, Jong-Il Kim, Soo Heon Kwak, Kyong
The Journal of Clinical Endocrinology & Metabolism.2019; 104(9): 4188. CrossRef
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A. Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde, Anand Swaroop
PLOS ONE.2017; 12(8): e0183081. CrossRef

Prevalence and Clinical Characteristics of Recently Diagnosed Type 2 Diabetes Patients with Positive Anti-Glutamic Acid Decarboxylase Antibody: Yul Hwangbo, Jin Taek Kim, Eun Ky Kim, Ah Reum Khang, Tae Jung Oh, Hak Chul Jang, Kyong Soo Park, Seong Yeon Kim, Hong Kyu Lee, Young Min Cho; Diabetes Metab J. 2012;36(2):136-143. Published online April 17, 2012; DOI: https://doi.org/10.4093/dmj.2012.36.2.136

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Background

Latent autoimmune diabetes in adults (LADA) refers to a specific type of diabetes characterized by adult onset, presence of islet auto-antibodies, insulin independence at the time of diagnosis, and rapid decline in β-cell function. The prevalence of LADA among patients with type 2 diabetes varies from 2% to 20% according to the study population. Since most studies on the prevalence of LADA performed in Korea were conducted in patients who had been tested for anti-glutamic acid decarboxylase antibody (GADAb), a selection bias could not be excluded. In this study, we examined the prevalence and clinical characteristics of LADA among adult patients recently diagnosed with type 2 diabetes.

Methods

We included 462 patients who were diagnosed with type 2 diabetes within 5 years from the time this study was performed. We measured GADAb, fasting insulin level, fasting C-peptide level, fasting plasma glucose level, HbA1c, and serum lipid profiles and collected data on clinical characteristics.

Results

The prevalence of LADA was 4.3% (20/462) among adult patients with newly diagnosed type 2 diabetes. Compared with the GADAb-negative patients, the GADAb-positive patients had lower fasting C-peptide levels (1.2±0.8 ng/mL vs. 2.0±1.2 ng/mL, P=0.004). Other metabolic features were not significantly different between the two groups.

Conclusion

The prevalence of LADA is 4.3% among Korean adult patients with recently diagnosed type 2 diabetes. The Korean LADA patients exhibited decreased insulin secretory capacity as reflected by lower C-peptide levels.

Citations

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Ricardo Alemán-Contreras, Rita A. Gómez-Díaz, Maura E. Noyola-García, Rafael Mondragón-González, Niels Wacher, Aldo Ferreira-Hermosillo
Life.2024; 14(5): 550. CrossRef
Prevalence of latent autoimmune diabetes in adults and insulin resistance: a systematic review and meta-analysis
Malihe Mohammadi
European Journal of Translational Myology.2024;[Epub] CrossRef
The worldwide prevalence of latent autoimmune diabetes of adults among adult-onset diabetic individuals: a systematic review and meta-analysis
Deepika Ramu, Selvaraj Ramaswamy, Suresh Rao, Solomon F. D. Paul
Endocrine.2023; 82(1): 28. CrossRef
Investigation of serum level relationship anti-glutamic acid decarboxylase antibody and inflammatory cytokines (IL1-β, IL-6) with vitamins D in type 2 diabetes
Vahid Pouresmaeil, Sarmad Mashayekhi, Mohammad Sarafraz Yazdi
Journal of Diabetes & Metabolic Disorders.2022; 21(1): 181. CrossRef
Recent information on test utilization and intraindividual change in anti-glutamic acid decarboxylase antibody in Korea: a retrospective study
Rihwa Choi, Wonseo Park, Gayoung Chun, Jiwon Lee, Sang Gon Lee, Eun Hee Lee
BMJ Open Diabetes Research & Care.2022; 10(3): e002739. CrossRef
Prevalence and factors associated with latent autoimmune diabetes in adults (LADA): a cross-sectional study
Anselmo M. Manisha, Aminiel R. Shangali, Sayoki G. Mfinanga, Erasto V. Mbugi
BMC Endocrine Disorders.2022;[Epub] CrossRef
Latent Autoimmune Diabetes in Adults (LADA) and its Metabolic Characteristics among Yemeni Type 2 Diabetes Mellitus Patients
Dhekra Al-Zubairi, Molham AL-Habori, Riyadh Saif-Ali
Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy.2021; Volume 14: 4223. CrossRef
Therapeutic approaches for latent autoimmune diabetes in adults: One size does not fit all
Theocharis Koufakis, Niki Katsiki, Pantelis Zebekakis, George Dimitriadis, Kalliopi Kotsa
Journal of Diabetes.2020; 12(2): 110. CrossRef
Long‐term effects on glycaemic control and β‐cell preservation of early intensive treatment in patients with newly diagnosed type 2 diabetes: A multicentre randomized trial
Suk Chon, Sang Youl Rhee, Kyu Jeung Ahn, Sei Hyun Baik, Yongsoo Park, Moon Suk Nam, Kwan Woo Lee, Soon Jib Yoo, Gwanpyo Koh, Dae Ho Lee, Young Seol Kim, Jeong‐Taek Woo
Diabetes, Obesity and Metabolism.2018; 20(5): 1121. CrossRef
A Global Perspective of Latent Autoimmune Diabetes in Adults
Rajashree Mishra, Kenyaita M. Hodge, Diana L. Cousminer, Richard D. Leslie, Struan F.A. Grant
Trends in Endocrinology & Metabolism.2018; 29(9): 638. CrossRef
The prevalence of latent autoimmune diabetes in adults and its correlates in patients with type 2 diabetes in Kerman, Iran [2011]
Gozashti Mohammad Hossein, Shafiei Maryam, Esmaeilian Saeed, Najafipour Hamid, Mashrouteh Mahdieh
Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2015; 9(2): 104. CrossRef
Low prevalence of latent autoimmune diabetes in adults in northern India
A. Sachan, G. Zaidi, R. P. Sahu, S. Agrawal, P. G. Colman, E. Bhatia
Diabetic Medicine.2015; 32(6): 810. CrossRef
Amelioration of Diabetes-induced Cognitive Deficits by GSK-3β Inhibition is Attributed to Modulation of Neurotransmitters and Neuroinflammation
Ashok Kumar Datusalia, Shyam Sunder Sharma
Molecular Neurobiology.2014; 50(2): 390. CrossRef
Successful treatment of latent autoimmune diabetes in adults with Traditional Chinese Medicine: a case report
Jiaxing Tian, Wenke Liu, Zhong Zhen, Xiaolin Tong
Journal of Traditional Chinese Medicine.2013; 33(6): 766. CrossRef
Clinical characteristics and insulin independence of Koreans with new‐onset type 2 diabetes presenting with diabetic ketoacidosis
H. Seok, C. H. Jung, S. W. Kim, M. J. Lee, W. J. Lee, J. H. Kim, B‐W. Lee
Diabetes/Metabolism Research and Reviews.2013; 29(6): 507. CrossRef
A Case of Latent Autoimmune Diabetes in Adults Developed after Surgical Cure of Growth Hormone Secreting Pituitary Tumor
Wonjin Kim, Jung Ho Kim, Youngsook Kim, Ji Hye Huh, Su Jin Lee, Mi Sung Park, Eun Yeong Choe, Jeong Kyung Park, Myung Won Lee, Jae Won Hong, Byung Wan Lee, Eun Seok Kang, Bong Soo Cha, Eun Jig Lee, Hyun Chul Lee
Endocrinology and Metabolism.2012; 27(4): 318. CrossRef
Latent Autoimmune Diabetes in Adults: Autoimmune Diabetes in Adults with Slowly Progressive β-cell Failure
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Diabetes & Metabolism Journal.2012; 36(2): 116. CrossRef

Carotid Intimal-Medial Thickness Is Not Increased in Women with Previous Gestational Diabetes Mellitus: Yun Hyi Ku, Sung Hee Choi, Soo Lim, Young Min Cho, Young Joo Park, Kyong Soo Park, Seong Yeon Kim, Hak Chul Jang; Diabetes Metab J. 2011;35(5):497-503. Published online October 31, 2011; DOI: https://doi.org/10.4093/dmj.2011.35.5.497

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Background

Gestational diabetes mellitus (GDM) is known to increase the risk of cardiovascular diseases. Measuring the carotid artery intimal-medial thickness (CIMT) is a non-invasive technique used to evaluate early atherosclerosis and to predict future cardiovascular diseases. We examined the association between CIMT and cardiovascular risk factors in young Korean women with previous GDM.

Methods

One hundred one women with previous GDM and 19 women who had normal pregnancies (NP) were recruited between 1999 and 2002. At one year postpartum, CIMT was measured using high-resolution B-mode ultrasonography, and oral glucose tolerance tests were performed. Fasting glucose, glycated hemoglobin A1c (HbA1c), insulin levels and lipid profiles were also measured. CIMTs in the GDM and NP groups were compared, and the associations between CIMT and cardiovascular risk factors were analyzed in the GDM group.

Results

CIMT results of the GDM group were not significantly different from those of the NP group (GDM, 0.435±0.054 mm; NP, 0.460±0.046 mm; P=0.069). In the GDM group, a higher HbA1c was associated with an increase in CIMT after age adjustment (P=0.011). CIMT results in the group with HbA1c >6.0% were higher than those of the normal HbA1c (HbA1c ≤6.0%) (P=0.010). Nine of the patients who are type 2 diabetes mellitus converters within one year postpartum but showed no significant difference in CIMT results compared to NP group.

Conclusion

Higher HbA1c is associated with an increase in CIMT in women with previous GDM. However, CIMT at one year postpartum was not increased in these women compared to that in NP women.

Citations

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Women with a history of gestational diabetes on long-term follow up have normal vascular function despite more dysglycemia, dyslipidemia and adiposity
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