MODY in Siberia – molecular genetics and clinical characteristics

The diagnosis of maturity onset diabetes of the young (MODY) has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents) and their relatives (high probability of first-degree relati...

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Autores principales:	Alla Konstantinovna Ovsyannikova, Oksana Dmitrievna Rymar, Elena Vladimirovna Shakhtshneider, Elena Nikolaevna Voropaeva, Dinara Evgenevna Ivanoshchuk, Mikhail Ivinovich Voevoda
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2017
Materias:	diabetes mellitus mody genes mutations molecular genetic testing Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/488bed6bf74b4fdf9b3765601c931f18
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spelling	oai:doaj.org-article:488bed6bf74b4fdf9b3765601c931f182021-11-14T09:00:21ZMODY in Siberia – molecular genetics and clinical characteristics2072-03512072-037810.14341/DM7920https://doaj.org/article/488bed6bf74b4fdf9b3765601c931f182017-05-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/7920https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378The diagnosis of maturity onset diabetes of the young (MODY) has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents) and their relatives (high probability of first-degree relatives being carriers of mutations, which requires a thorough collection of family history and determination of the parameters of carbohydrate metabolism). Aim. This study aimed was to determine the clinical characteristics of different subtypes of MODY in a Siberian region. Materials and Methods. We performed an examination, biochemical and hormonal blood tests, ultrasound and molecular genetic testing of 20 patients with a clinical diagnosis of MODY. Results. Four subtypes of MODY were verified: MODY2 in 11 patients, MODY3 in two, MODY8 in one and MODY12 in two. Eleven patients (69%) exhibited no clinical manifestations of carbohydrate metabolism disorders, and one patient showed weight loss during early stage of the disease. Comorbidities included dyslipidemia, thyroid gland disorders and arterial hypertension. One patient (6%) exhibited diabetic nephropathy; two (13%), diabetic retinopathy and three (19%), peripheral neuropathy of lower legs. All patients achieved the target carbohydrate metabolism; the level of C-peptide was within the reference range. Conclusion. Four different subtypes of MODY (2, 3, 8, 12) were diagnosed in the present study, which differed in their clinical characteristics, presence of complications and treatment strategies. Our knowledge of monogenic forms of diabetes is expanding with the development in molecular genetics, but several aspects related to them require further study.Alla Konstantinovna OvsyannikovaOksana Dmitrievna RymarElena Vladimirovna ShakhtshneiderElena Nikolaevna VoropaevaDinara Evgenevna IvanoshchukMikhail Ivinovich VoevodaEndocrinology Research Centrearticlediabetes mellitusmodygenesmutationsmolecular genetic testingNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 20, Iss 1, Pp 5-12 (2017)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	diabetes mellitus mody genes mutations molecular genetic testing Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	diabetes mellitus mody genes mutations molecular genetic testing Nutritional diseases. Deficiency diseases RC620-627 Alla Konstantinovna Ovsyannikova Oksana Dmitrievna Rymar Elena Vladimirovna Shakhtshneider Elena Nikolaevna Voropaeva Dinara Evgenevna Ivanoshchuk Mikhail Ivinovich Voevoda MODY in Siberia – molecular genetics and clinical characteristics
description	The diagnosis of maturity onset diabetes of the young (MODY) has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents) and their relatives (high probability of first-degree relatives being carriers of mutations, which requires a thorough collection of family history and determination of the parameters of carbohydrate metabolism). Aim. This study aimed was to determine the clinical characteristics of different subtypes of MODY in a Siberian region. Materials and Methods. We performed an examination, biochemical and hormonal blood tests, ultrasound and molecular genetic testing of 20 patients with a clinical diagnosis of MODY. Results. Four subtypes of MODY were verified: MODY2 in 11 patients, MODY3 in two, MODY8 in one and MODY12 in two. Eleven patients (69%) exhibited no clinical manifestations of carbohydrate metabolism disorders, and one patient showed weight loss during early stage of the disease. Comorbidities included dyslipidemia, thyroid gland disorders and arterial hypertension. One patient (6%) exhibited diabetic nephropathy; two (13%), diabetic retinopathy and three (19%), peripheral neuropathy of lower legs. All patients achieved the target carbohydrate metabolism; the level of C-peptide was within the reference range. Conclusion. Four different subtypes of MODY (2, 3, 8, 12) were diagnosed in the present study, which differed in their clinical characteristics, presence of complications and treatment strategies. Our knowledge of monogenic forms of diabetes is expanding with the development in molecular genetics, but several aspects related to them require further study.
format	article
author	Alla Konstantinovna Ovsyannikova Oksana Dmitrievna Rymar Elena Vladimirovna Shakhtshneider Elena Nikolaevna Voropaeva Dinara Evgenevna Ivanoshchuk Mikhail Ivinovich Voevoda
author_facet	Alla Konstantinovna Ovsyannikova Oksana Dmitrievna Rymar Elena Vladimirovna Shakhtshneider Elena Nikolaevna Voropaeva Dinara Evgenevna Ivanoshchuk Mikhail Ivinovich Voevoda
author_sort	Alla Konstantinovna Ovsyannikova
title	MODY in Siberia – molecular genetics and clinical characteristics
title_short	MODY in Siberia – molecular genetics and clinical characteristics
title_full	MODY in Siberia – molecular genetics and clinical characteristics
title_fullStr	MODY in Siberia – molecular genetics and clinical characteristics
title_full_unstemmed	MODY in Siberia – molecular genetics and clinical characteristics
title_sort	mody in siberia – molecular genetics and clinical characteristics
publisher	Endocrinology Research Centre
publishDate	2017
url	https://doaj.org/article/488bed6bf74b4fdf9b3765601c931f18
work_keys_str_mv	AT allakonstantinovnaovsyannikova modyinsiberiamoleculargeneticsandclinicalcharacteristics AT oksanadmitrievnarymar modyinsiberiamoleculargeneticsandclinicalcharacteristics AT elenavladimirovnashakhtshneider modyinsiberiamoleculargeneticsandclinicalcharacteristics AT elenanikolaevnavoropaeva modyinsiberiamoleculargeneticsandclinicalcharacteristics AT dinaraevgenevnaivanoshchuk modyinsiberiamoleculargeneticsandclinicalcharacteristics AT mikhailivinovichvoevoda modyinsiberiamoleculargeneticsandclinicalcharacteristics
_version_	1718429524027244544

MODY in Siberia – molecular genetics and clinical characteristics

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