Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female wer...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Associação Paulista de Medicina
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| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007&lng=en&tlng=en |
| _version_ | 1818051172205854720 |
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| author | Estela Maria Novak Carlos Alberto Longui Sergio Paulo Bydlowski |
| author_facet | Estela Maria Novak Carlos Alberto Longui Sergio Paulo Bydlowski |
| author_sort | Estela Maria Novak |
| collection | DOAJ |
| description | Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients. |
| first_indexed | 2024-12-10T11:05:08Z |
| format | Article |
| id | doaj.art-a7159898fa6f436fb6e3dd7503889c61 |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-12-10T11:05:08Z |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-a7159898fa6f436fb6e3dd7503889c612022-12-22T01:51:35ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-946011561593159510.1590/S1516-31801997000600007S1516-31801997000600007Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophyEstela Maria Novak0Carlos Alberto Longui1Sergio Paulo Bydlowski2Fundação Pró-Sangue Hemocentro de São PauloFundação Pró-Sangue Hemocentro de São PauloFundação Pró-Sangue Hemocentro de São PauloCongenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007&lng=en&tlng=enApolipoproteinsCongenital generalized lipodystrophyApo AI-CIII-AIV gene |
| spellingShingle | Estela Maria Novak Carlos Alberto Longui Sergio Paulo Bydlowski Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy São Paulo Medical Journal Apolipoproteins Congenital generalized lipodystrophy Apo AI-CIII-AIV gene |
| title | Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy |
| title_full | Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy |
| title_fullStr | Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy |
| title_full_unstemmed | Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy |
| title_short | Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy |
| title_sort | uncommon allele in apo ai ciii aiv gene cluster in a family with congenital generalized lipodystrophy |
| topic | Apolipoproteins Congenital generalized lipodystrophy Apo AI-CIII-AIV gene |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007&lng=en&tlng=en |
| work_keys_str_mv | AT estelamarianovak uncommonalleleinapoaiciiiaivgeneclusterinafamilywithcongenitalgeneralizedlipodystrophy AT carlosalbertolongui uncommonalleleinapoaiciiiaivgeneclusterinafamilywithcongenitalgeneralizedlipodystrophy AT sergiopaulobydlowski uncommonalleleinapoaiciiiaivgeneclusterinafamilywithcongenitalgeneralizedlipodystrophy |